From http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf which lists 1827 conditions. Reading the terms of use at http://www.orpha.net/consor/cgi-bin/Education_AboutOrphanet.php?lng=EN&stapage=CGU I suspect permission would need be sought to publish the entire list with its list of prevelances or cases/family numbers across Europe.
I wonder how many of these we have articles for. I note some terms might exist albeit rephrased, eg [Parkinson’s disease dementia, familial] might possibly be included in Parkinson’s disease or [Squamous cell carcinoma of head and neck] is clearly the article Squamous cell carcinoma.
- Hyperplastic polyposis syndrome
- Lupus erythematosus, cutaneous
- Narcolepsy-cataplexy
- Melanoma, familial
- Squamous cell carcinoma of head and neck
- Autism
- Tetralogy of Fallot
- Arrhythmogenic right ventricular dysplasia
- Meniere disease
- Triplo-X syndrome
- Chromosome Y deletion
- Scleroderma
- Parkinson’s disease dementia, familial
- Fetal cytomegalovirus syndrome
- Parkinsonism, young adult onset
- Follicular lymphoma
- Non-Hodgkin lymphoma
- Elliptocytosis, hereditary
- Osteochondritis dissecans
- Radiation proctitis
- Adactylia unilateral
- Cryptosporidiosis
- Malignant hyperthermia
- Charcot-Marie-Tooth disease
- Transposition of the great arteries
- Leukemia, B-cell lymphocytic, chronic
- Acute Respiratory Distress Syndrome, adult
- Arthrogryposis multiplex congenita
- Marfan syndrome
- Hypothyroidism, congenital
- Retinitis pigmentosa
- Thrombocythemia, essential
- Pulmonary fibrosis, idiopathic
- Post-transplant lymphoproliferative disease
- Alpha-1 antitrypsin deficiency
- Breast cancer, familial
- Esophageal atresia
- Long QT syndrome, familial
- Myelodysplastic syndromes
- Neurofibromatosis type 1
- Polycythemia vera
- Polydactyly, preaxial
- Syndactyly, type 1
- Thrombocytopenic purpura, autoimmune
- Isolated anorectal malformation
- Legg-Calve-Perthes disease
- VATER association
- Keratoconjunctivitis, vernal
- Arthritis, oligoarticular juvenile
- Dermatitis herpetiformis
- Atresia of small intestine
- Atrioventricular canal, partial
- Gastric cancer
- Hirschsprung disease
- Isolated scaphocephaly
- Monosomy 22q11
- Myasthenia gravis
- Spherocytosis hereditary
- Sucrase-isomaltase deficiency, congenital
- Tuberculosis
- Turner syndrome
- Corpus callosum agenesis neuronopathy
- Nephrotic syndrome, idiopathic, steroid-sensitive
- Cardiomyopathy, familial dilated
- Boutonneuse fever
- Renal agenesis, bilateral
- Ichthyosis, X-linked
- MELAS syndrome
- Stromal keratitis
- Leucinosis
- Acyl-CoA dehydrogenase, medium chain, deficiency of
- Atrioventricular canal, complete
- Diaphragmatic hernia, congenital
- Lennox-Gastaut syndrome
- Microtia
- Parkinson disease, genetic type
- Sarcoidosis
- Dermatomyositis
- Polymyositis
- Fragile X syndrome
- Myeloma, multiple
- Anophthalmia - Microphthalmia, isolated
- Cystinuria
- Primary biliary cirrhosis
- Stickler syndrome
- Williams syndrome
- Androgen insensitivity syndrome
- Bronchopulmonary dysplasia
- Gastrointestinal stromal tumor
- Soft tissue sarcomas
- Trisomy 13
- Buerger’s disease
- Ehlers-Danlos syndrome, type 3
- Supravalvar aortic stenosis
- Von Willebrand disease
- Cystic fibrosis
- Gastroschisis
- Hypergonadotropic ovarian dysgenesis
- Omphalocele
- Leukemia, myeloid, acute
- Focal dystonia
- MURCS association
- Stargardt disease
- Glioblastoma
- Hepatic veno-occlusive disease
- Multiple endocrine neoplasia type 1
- Primary sclerosing cholangitis
- Sickle cell anemia
- Prader-Willi syndrome
- Alopecia totalis
- Collagenous colitis
- Hodgkin lymphoma, classical
- Nephroblastoma
- 3-methylglutaconic aciduria, type 3
- Achalasia, primary
- Bone tumor
- Cholangiocarcinoma
- Congenital adrenal hyperplasia
- Congenital factor II deficiency
- Dermatofibrosarcoma protuberans
- Distal myopathy, Welander type
- Duane syndrome
- Hemiplegic migraine, familial or sporadic
- Idiopathic hypereosinophilic syndrome
- Isolated plagiocephaly
- Leber amaurosis, congenital
- Lung cancer, small cell
- Myelofibrosis with myeloid metaplasia
- Pancreatitis, acute, recurrent
- Pheochromocytoma and secreting paraganglioma
- Polymorphic catecholergic ventricular tachycardia
- Porphyria, acute intermittent
- Hereditary neuropathy with liability to pressure palsies
- Mayer-Rokitansky-Küster-Hauser syndrome
- Mitochondrial disease of nuclear origin
- Trisomy 18
- Giant cell arteritis
- Lymphedema, congenital
- Tuberous sclerosis
- Pierre Robin sequence, isolated
- Duodenal atresia
- Henoch-Schoenlein purpura
- NARP/MILS syndrome
- Syringomyelia
- Cutaneous lymphoma
- Choanal atresia
- Esophageal carcinoma
- Leukemia, promyelocytic, acute
- Polyarthritis, juvenile, rheumatoid factor-negative
- Hyperlipidemia type 3
- Hemophilia
- Kallmann syndrome
- Common variable immunodeficiency
- Microscopic polyangiitis
- Beckwith-Wiedemann syndrome
- Pulmonary valve stenosis, congenital
- Oculocutaneous albinism
- Autosomal recessive cerebellar ataxia
- Cystathioninuria
- Facioscapulohumeral muscular dystrophy
- Fryns syndrome
- Holoprosencephaly
- Sotos syndrome
- Thyroid carcinoma, medullary
- Isolated trigonocephaly
- Iminoglycinuria
- Cat-scratch disease
- Galactosemia
- Wegener granulomatosis
- Angelman syndrome
- Carcinoma of the gallbladder
- Leber hereditary optic neuropathy
- Leukemia, lymphoblastic, acute
- Osteogenesis imperfecta
- Polycystic kidney disease, autosomal recessive
- Smith-Lemli-Opitz syndrome
- Ectopia lentis isolated
- Arthritis, systemic-onset, juvenile idiopathic
- Vasculitis
- Huntington disease
- Cerebral arteriovenous fistula
- Chronic myeloid leukemia
- Digitotalar dysmorphism
- Optic atrophy
- Tibial muscular dystrophy
- Treacher-Collins syndrome
- Wilson disease
- Arthritis, enthesitis-related
- Biliary atresia
- Pendred syndrome
- Retinoblastoma
- Alzheimer disease, familial
- Zollinger-Ellison syndrome
- Familial adenomatous polyposis
- Hemolytic anemia due to red cell pyruvate kinase deficiency
- Acromegaly
- Adrenoleukodystrophy, X-linked
- Amyotrophic lateral sclerosis
- Buschke-Ollendorff syndrome
- Duchenne and Becker muscular dystrophy
- Epiphyseal dysplasia multiple
- Familial spastic paraplegia
- Fructose intolerance
- Hydrolethalus
- Isolated brachycephaly
- Osteosarcoma
- Parietal foramina
- Primary ciliary dyskinesia
- Rheumatic fever
- Thomsen and Becker disease
- Tricuspid atresia
- Tritanopia
- Acrocephalosyndactyly
- Monosomy 5p
- Multiple system atrophy
- Achondroplasia
- Lobar emphysema, congenital
- Retinoschisis, X-linked
- Steinert myotonic dystrophy
- Best disease
- Chronic inflammatory demyelinating polyneuropathy
- Arthritis, juvenile psoriatic
- Polyarthritis, juvenile, rheumatoid factor-positive
- Hemimelia
- Rett syndrome
- Amniotic bands
- Ceroid lipofuscinosis, neuronal
- Corticobasal degeneration
- Hartnup syndrome
- Histidinemia
- Idiopathic hypersomnia
- Meckel syndrome
- Phenylketonuria
- Smith-Magenis syndrome
- Mantle cell lymphoma
- Acute interstitial pneumonia
- Anisakiasis
- Muscular dystrophy, limb-girdle, autosomal recessive, type 2a
- Pemphigus vulgaris
- Propionic acidemia
- Supranuclear palsy, progressive
- West syndrome
- Classic Ehlers-Danlos syndrome
- Diastrophic dwarfism
- Goldenhar syndrome
- MASA syndrome
- Rendu-Osler-Weber disease
- Thanatophoric dwarfism
- Usher syndrome
- Guillain-Barré syndrome
- Graft versus host disease
- Achromatopsia
- Choroidal dystrophy, central areolar
- Hypochondroplasia
- Mastocytosis, systemic
- Multiple endocrine neoplasia, type 2
- Parsonage-Turner syndrome
- Anencephaly
- Moyamoya disease
- Acatalasemia
- Polyarteritis nodosa
- Bacterial toxic-shock syndrome
- Frontotemporal dementia
- Malaria
- Nodular regenerative hyperplasia of the liver
- Opitz BBB/G syndrome
- Proximal spinal muscular atrophy
- Pseudoachondroplasia
- Saethre-Chotzen syndrome
- Kennedy disease
- Leigh syndrome
- Proximal spinal muscular atrophy, type 2
- Proximal spinal muscular atrophy, type 3
- Waldenström macroglobulinemia
- Anorchidia, bilateral
- Behcet disease
- BOR syndrome
- Bullous pemphigoid
- Cone rod dystrophy
- Epidermolysis bullosa, epidermolytic
- Friedreich ataxia
- Fructose-1,6-bisphosphatase deficiency
- Gitelman syndrome
- Heterotaxia
- Niemann-Pick disease
- Palmoplantar keratoderma, diffuse, Norrbotten dominant type
- Pseudoxanthoma elasticum
- Restrictive cardiomyopathy, idiopathic or familial
- Meconium aspiration syndrome
- Waardenburg syndrome
- 3-methylcrotonylglycinuria
- Ondine syndrome
- Peutz-Jeghers syndrome
- Autosomal dominant cerebellar ataxia
- GRACILE syndrome
- Alport syndrome
- Choroideremia
- Coats disease
- Craniopharyngioma
- Crouzon disease
- Exostoses, multiple
- Gaucher disease
- Giant pigmented hairy nevus
- Hemicrania, paroxysmal
- Isolated Klippel-Feil syndrome
- Kearns-Sayre syndrome
- Langerhans cell histiocytosis
- Lateral body wall complex
- Nail-patella syndrome
- Non-distal trisomy 12p
- Ocular albinism, X-linked recessive
- Persistent hyperinsulinemic hypoglycemia of infancy
- Poland anomaly
- Sarcosinemia
- Van Der Woude syndrome
- Wolf-Hirschhorn syndrome
- Sternal cleft
- Gamma-sarcoglycanopathy
- Cornelia de Lange syndrome
- Muenke syndrome
- Amoebiasis due to free-living amoebae
- Aniridia
- Fabry disease
- 2,8 dihydroxyadenine urolithiasis
- Kaposi’s sarcoma
- Walker-Warburg syndrome
- Charcot-Marie-Tooth disease, X-linked
- Schizencephaly
- Antisynthetase syndrome
- Budd-Chiari syndrome
- CDG syndrome
- Darier disease
- Femur-fibula-ulna complex
- Idiopathic and/or familial pulmonary arterial hypertension
- Laryngo-tracheo-oesophageal cleft
- Multifocal motor neuropathy with conduction block
- Neuromyelitis optica
- Porphyria, chronic hepatic
- Primary lateral sclerosis
- Severe combined immunodeficiency T- B+, X-linked
- Alagille syndrome
- Cat-eye syndrome
- Netherton disease
- Mucopolysaccharidosis type 1
- Apert syndrome
- Maternal hyperphenylalaninemia
- Still’s disease, adult onset
- Oral-facial-digital syndrome, type 1
- Superficial pemphigus
- Kabuki syndrome
- Glycogen storage disease type 2
- Ligneous conjunctivitis
- Mucopolysaccharidosis type 3
- Split hand - split foot
- Zellweger syndrome
- Medullary cystic kidney disease, autosomal recessive
- Cutis verticis gyrata - intellectual deficit
- 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency of
- Acanthamoeba keratitis
- Adrenocortical carcinoma
- Albers-Schonberg osteopetrosis
- Ataxia-telangiectasia
- Chondrodysplasia punctata, rhizomelic type
- Chronic hiccup
- Churg-Strauss syndrome
- Clouston syndrome
- Crigler-Najjar syndrome
- Dyserythropoietic anemia, congenital
- Ehlers-Danlos syndrome, type 4
- Fanconi anemia
- Gorlin syndrome
- Harding ataxia
- Holt-Oram syndrome
- Hypokalemic periodic paralysis
- Isovaleric acidemia
- Joubert syndrome
- Lambert-Eaton myasthenic syndrome
- Macrophagic myofasciitis
- Nemaline myopathy
- Nijmegen breakage syndrome
- Ocular coloboma
- Oculopharyngeal muscular dystrophy
- Ornithine carbamoyltransferase deficiency
- Pfeiffer syndrome
- Proximal myotonic myopathy
- Pure autonomic failure
- Rubella syndrome, congenital
- Rubinstein-Taybi syndrome
- Sirenomelia
- Tracheal agenesis
- [[Acalvaria <]]
- Gaucher disease, type 1
- Lewis-Sumner syndrome
- MERRF syndrome
- Protoporphyria, erythropoietic
- Niemann-Pick disease, type C
- Bardet-Biedl syndrome
- Criss-cross heart
- Limb-girdle muscular dystrophy
- Congenital myasthenic syndromes
- Ebstein anomaly
- Hepatitis, chronic autoimmune
- Hyperkalemic periodic paralysis
- Krabbe disease
- Mastocytosis, cutaneous
- Niemann-Pick disease, type B
- Osteopetrosis, malignant, autosomal recessive
- Sandhoff disease
- Albright hereditary osteodystrophy
- Carbamoylphosphate synthetase deficiency
- Menkes syndrome
- Goodpasture syndrome
- Glycogen storage disease type 4
- Hyperlipoproteinemia type 1
- Mucopolysaccharidosis type 2
- Alpha-sarcoglycanopathy
- Beta-sarcoglycanopathy
- Delta-sarcoglycanopathy
- Wolfram syndrome
- Cantrell pentalogy
- Coffin-Lowry syndrome
- Paroxysmal nocturnal hemoglobinuria
- Muscular dystrophy, Fukuyama type
- Beta-thalassemia
- Birt-Hogg-Dube syndrome
- Cutaneous neuroendocrine carcinoma
- Cystinosis
- Diabetes insipidus, nephrogenic
- Neurofibromatosis type 2
- Rieger syndrome
- Xeroderma pigmentosum
- X-linked dominant chondrodysplasia punctata
- Sporadic inclusion body myositis
- Cowden syndrome
- Takayasu arteritis
- Werner syndrome
- X-linked agammaglobulinemia
- Townes-Brocks syndrome
- Aplastic anemia
- Autosomal dominant severe congenital neutropenia
- Early onset torsion dystonia
- Erythroderma, congenital ichthyosiform, bullous
- Glutaryl-CoA dehydrogenase deficiency
- Homocystinuria due to cystathionine beta-synthase deficiency
- Mucopolysaccharidosis type 4
- Sjögren-Larsson syndrome
- Lesch-Nyhan syndrome
- Agammaglobulinemia, alymphocytotic type
- Campomelic dysplasia
- Christ-Siemens-Touraine syndrome
- Relapsing polychondritis
- Spondylometaphyseal dysplasia
- Ichthyosis, lamellar
- Blackfan-Diamond disease
- Proximal spinal muscular atrophy, type 4
- Alkaptonuria
- Aortic arch interruption
- Congenital muscular dystrophy type 1A
- Dystonia, dopa-responsive
- Emery-Dreifuss muscular dystrophy
- Miller-Dieker syndrome
- Pterygium popliteal syndrome, autosomal dominant
- Tay-Sachs disease
- Transmissible spongiform encephalopathies
- Dentatorubral pallidoluysian atrophy
- Wolman disease
- Epidermolysis bullosa, dystrophic
- Proximal spinal muscular atrophy, type 1
- Congenital factor VII deficiency
- Lipodystrophy, Berardinelli type
- Niemann-Pick disease, type A
- Papillon-Lefevre syndrome
- Pelizaeus-Merzbacher disease
- Piebaldism
- Progeria
- Leptospirosis
- Severe combined immunodeficiency due to adenosine deaminase deficiency
- Acrodermatitis enteropathica, zinc deficiency type
- Diabetes mellitus, neonatal
- Granulomatous disease, chronic
- Hyperglycinemia, isolated nonketotic
- Hyperoxaluria
- Incontinentia pigmenti
- Jeune syndrome
- Short stature due to growth hormone resistance
- Unverricht-Lundborg disease
- Von Hippel-Lindau disease
- Lowe syndrome
- Sezary’s syndrome
- Atypical coarctation of aorta
- Metachromatic leukodystrophy
- Mucopolysaccharidosis type 6
- Congenital fibrinogen deficiency
- Congenital muscular dystrophy, non merosin negative
- Epilepsy, pyridoxin-dependent
- Hermansky-Pudlak syndrome
- Mucolipidosis type 2
- Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
- Wiskott-Aldrich syndrome
- CHARGE syndrome
- Thyroid carcinoma, anaplastic
- Xanthomatosis cerebrotendinous
- Hereditary chronic pancreatitis
- Bartter syndrome
- Lissencephaly type 2
- Medullary cystic kidney disease, autosomal dominant, with or without hyperuricemia
- Alpha-mannosidosis
- Congenital factor V deficiency
- Congenital factor XI deficiency
- Creutzfeldt-Jakob disease
- Diffuse leiomyomatosis - Alport syndrome X-linked
- Distal myopathy, Nonaka type
- Dyskeratosis congenita
- Evans syndrome
- Ewing sarcoma
- Familial cold urticaria
- Hemophilia, acquired
- Lemierre syndrome
- Leprechaunism
- Lymphangioleiomyomatosis
- Neutropenia cyclic
- Pulmonary alveolar proteinosis
- Refsum disease
- Senior-Loken syndrome
- Stiff-man syndrome
- Tibial aplasia - ectrodactyly
- Tibial hemimelia
- X-linked lymphoproliferative disease
- Lafora disease
- Fibrodysplasia ossificans progressiva
- Epidermolysis bullosa, junctional
- Mendelian susceptibility to atypical mycobacteria
- Aceruloplasminemia
- Botulism
- Chordoma
- Craniofacial dyssynostosis
- Gaucher disease, type 3
- Osteoporosis - pseudoglioma
- Tyrosinemia type 1
- Fibrous dysplasia of bone
- Congenital factor XIII deficiency
- Naegeli-Franceschetti-Jadassohn syndrome
- Congenital muscular dystrophy with integrin deficiency
- Alpers syndrome
- Sialidosis type 1
- Sialidosis, type 2
- Gaucher disease, type 2
- Perinatal-lethal Gaucher disease
- Refsum disease, infantile form
- Thalidomide embryopathy
- Angio-osteohypertrophic syndrome
- Whipple disease
- Alveolar echinococcosis
- Esthesioneuroblastoma
- Rickettsialpox
- Fetal methyl mercury syndrome
- Western equine encephalitis
- Enchondromatosis
- Familial dysautonomia
- Adamantinoma
- Ovotesticular disorder of sex development
- CADASIL
- Cronkhite-Canada syndrome
- Histiocytosis, sinus, with massive lymphadenopathy
- Malakoplasia
- Rhabdoid tumor
- Epidermal nevus syndrome
- Castleman disease
- Silver-Russell syndrome
- 4-hydroxybutyricaciduria
- Leukocyte adhesion deficiency
- Alexander disease
- Alström syndrome
- CDG syndrome, type Ia
- Cutis marmorata telangiectatica congenita
- Focal dermal hypoplasia
- Gräsbeck-Imerslund disease
- Lipodystrophy, familial partial, Dunnigan type
- Melorheostosis
- Methylmalonic acidemia - homocystinuria
- Methylmalonicacidemia - homocystinuria, type cbl C
- Moebius syndrome
- Norrie disease
- Rothmund-Thomson syndrome
- Von Willebrand syndrome, acquired
- Lipoid proteinosis
- Eosinophilic gastroenteritis
- Chronic recurrent multifocal osteomyelitis, juvenile
- Autosomal dominant hyper IgE syndrome
- Lipodystrophy, partial acquired
- Pulmonary hemosiderosis, primary
- Caroli disease
- 6-pyruvoyl-tetrahydropterin synthase, deficiency
- Oculodentodigital dysplasia
- Pachyonychia congenita
- Lhermitte-Duclos disease
- Muir-Torre syndrome
- Pachydermoperiostosis
- Aarskog-Scott syndrome
- Blue rubber bleb nevus
- Erythrokeratodermia variabilis, Mendes da Costa type
- Monosomy 22q13
- Papulosis, malignant atrophic
- Porphyria, congenital erythropoietic
- Pseudoarthrosis of clavicle, congenital
- Tufted angioma
- Adenosine monophosphate deaminase deficiency
- Aicardi syndrome
- Camurati-Engelmann disease
- Cockayne syndrome
- Cogan syndrome
- Costello syndrome
- Eosinophilic fasciitis
- Femur bifid - monodactylous - ectrodactyly
- Glucose-galactose malabsorption
- Gorham-Stout disease
- Kimura disease
- LEOPARD syndrome
- Marinesco-Sjogren syndrome
- Multiple pterygium syndrome, lethal form
- Proteus syndrome
- Shwachman-Diamond syndrome
- Subcorneal pustular dermatosis
- Monosomy 18p
- Mowat-Wilson syndrome
- Multicentric reticulohistiocytosis
- Sideroblastic anemia, X-linked
- Hyperimmunoglobinemia D with recurrent fever
- Erdheim-Chester disease
- Kasabach-Merritt syndrome
- Celiac disease - epilepsy - occipital calcifications
- Alpha thalassemia - intellectual deficit, X-linked
- Carney complex
- Madras motor neuron disease
- Infantile neuroaxonal dystrophy
- Denys-Drash syndrome
- Dubowitz syndrome
- Ellis Van Creveld syndrome
- Fraser syndrome
- Isolated cloverleaf skull syndrome
- Isolated humeroradial synostosis
- Jacobsen syndrome
- McLeod neuroacanthocytosis syndrome
- Pitt-Hopkins syndrome
- Xanthinuria
- CACH syndrome
- Bazex-Dupre-Christol syndrome
- Inflammatory pseudotumor of the liver
- Regional odontodysplasia
- Thyrotoxic periodic paralysis
- Dihydropteridine reductase deficiency
- Aorto-ventricular tunnel
- Weill-Marchesani syndrome
- Vulvovaginal gingival syndrome
- Robinow syndrome
- Aicardi-Goutieres syndrome
- MULIBREY nanism
- Bickel-Fanconi glycogenosis
- Myoclonic epilepsy of infancy
- Achondrogenesis
- Bloom syndrome
- Carnitine palmitoyl transferase 2 deficiency
- Central neurocytoma
- Cutis laxa
- Eosinophilic pneumonia, acute, idiopathic
- Fetal varicella syndrome
- KID syndrome
- Mucolipidosis type 4
- Ochoa syndrome
- Pulmonary lymphangiectasia, congenital
- Rasmussen subacute encephalitis
- Simpson-Golabi-Behmel syndrome
- Trichorhinophalangeal syndrome, type 1 and 3
- Autoimmune lymphoproliferative syndrome
- Bernard-Soulier syndrome
- Bethlem myopathy
- Carney triad
- Chaotic atrial tachycardia
- CINCA syndrome
- Cohen syndrome
- Congenital cataracts - facial dysmorphism - neuropathy
- Epidermolysis bullosa, acquired
- Fanconi syndrome
- Freeman-Sheldon syndrome
- Fucosidosis
- Greig syndrome
- Helicoid peripapillary chorioretinal degeneration
- Hemochromatosis, neonatal
- Immunodeficiency by defective expression of HLA class 2
- Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- Internal carotid agenesis
- Larsen syndrome
- Osteopathia striata - cranial sclerosis
- Pallister-Hall syndrome
- Peritoneal leiomyomatosis, disseminated
- PHACE syndrome
- Poikiloderma of Kindler
- Retinal arteries, tortuosity of
- Roberts syndrome/SC phocomelia
- Schwartz-Jampel syndrome
- Seckel syndrome
- Triple A syndrome
- Arthrogryposis - renal dysfunction - cholestasis
- Brown-Vialetto-van Laere syndrome
- Congenital muscular dystrophy, Ullrich type
- Hallermann-Streiff-Francois syndrome
- Hypertrichosis lanuginosa congenita
- Hypocomplementemic leucocytoclasic vasculitis
- Ichthyosis congenita, harlequin type
- Keratosis palmoplantaris - periodontopathia - onychogryposis
- Panniculitis, cytophagic histiocytic
- Recessive hereditary methemoglobinemia type 2
- Susac syndrome
- Tracheobronchomegaly
- Tyrosinemia, type 2
- X-linked spastic paraplegia, type 2
- Silent sinus syndrome
- Acrofacial dysostosis, Nager type
- Allan-Herndon-Dudley syndrome
- Megacystis microcolon - intestinal hypoperistalsis - hydronephrosis
- Early infantile epileptic encephalopathy
- Myoneurogastrointestinal encephalopathy syndrome
- Encephalopathy due to GLUT1 deficiency
- Glycogen storage disease due to LAMP-2 deficiency
- Uhl anomaly
- Lipodystrophy, acquired generalized
- Metatropic dwarfism
- Wells syndrome
- Rapp-Hodgkin syndrome
- Tangier disease
- Cleft lip/mandibule, median
- Craniometaphyseal dysplasia
- Lupus erythematosus, bullous systemic
- Pseudohypoaldosteronism, type 1
- Ring chromosome 18
- Diffuse neonatal hemangiomatosis
- Glutathione synthetase deficiency
- Hyperferritinemia, hereditary, with congenital cataracts
- Paraneoplastic pemphigus
- Cerebro-costo-mandibular syndrome
- Dyggve-Melchior-Clausen disease
- Griscelli disease
- Histiocytosis, sea-blue
- Homocystinuria without methylmalonic aciduria
- Hypertrichosis lanuginosa, acquired
- Ketoacidosis due to betaketothiolase deficiency
- Neu-Laxova syndrome
- Non-distal trisomy 10p
- Pancreatoblastoma
- Pearson syndrome
- Toriello-Carey syndrome
- Vitamin B12 responsive methylmalonic acidemia, type cbl A
- Double uterus - hemivagina - renal agenesis
- Ataxia, autosomal recessive, Beauce type
- Capillary leak syndrome
- Sporotrichosis
- Mazabraud syndrome
- Hennekam syndrome
- Megacalycosis, congenital
- Osteodysplasty, Melnick-Needles type
- Ring chromosome 20
- Acromesomelic dysplasia, Maroteaux type
- Acroosteolysis dominant type
- Adenylosuccinate lyase deficiency
- Ascher syndrome
- Benign paroxysmal torticollis of infancy
- Cholestasis - lymphedema
- Encephalopathy due to sulphite oxidase deficiency
- Focal myositis
- Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
- Glucocorticoid deficiency, familial
- Glucosephosphate isomerase deficiency
- Hyaline fibromatosis, juvenile
- ICF syndrome
- Mucosulfatidosis
- Ocular motor apraxia Cogan type
- Osteopetrosis, intermediate form
- Paget disease juvenile type
- Peters-plus syndrome
- Prolidase deficiency
- Rhombencephalosynapsis
- Ring chromosome 14
- Schimke immuno-osseous dysplasia
- Schnitzler syndrome
- Succinic acidemia
- Triple H (HHH) syndrome
- Waardenburg-Shah syndrome
- Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
- Blepharo-cheilo-odontic syndrome
- Branchio-oculo-facial syndrome
- Cholesteryl ester storage disease
- Congenital analbuminemia
- DOOR syndrome
- Ehrlichiosis
- Fibular aplasia - ectrodactyly
- Floating-Harbor syndrome
- Goldmann-Favre syndrome
- Granulomatous slack skin
- Hypoglossia - hypodactyly
- Midas syndrome
- Oculo-digito-esophageal-duodenal syndrome (ODED)
- Shprintzen-Goldberg syndrome
- Corticosteroid-sensitive aseptic abscesses
- Pityriasis rubra pilaris
- Coxo-podo-patellar syndrome
- Mohr-Tranebjaerg syndrome
- Encephalocraniocutaneous lipomatosis
- KBG syndrome
- Bowen-Conradi syndrome
- Ear-patella-short stature syndrome
- Desbuquois syndrome
- 3M syndrome
- Ambras syndrome
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Babesiosis
- Carpenter syndrome
- Chylomicron retention disease
- Coffin-Siris syndrome
- Distal monosomy 10q
- Distal trisomy 10q
- Distal trisomy 6p
- Galloway-Mowat syndrome
- Macrocephaly - Cutis Marmorata Telangiectatica Congenita
- Methimazole embryofetopathy
- Phytosterolemia
- WHIM syndrome
- Acromicric dysplasia
- Arterial tortuosity
- Bruck syndrome
- Encephalopathy, ethylmalonic
- Mucopolysaccharidosis type 7
- Progressive bulbar paralysis of childhood
- Leukoencephalopathy with brain stem, spinal cord involvement - lactate elevation
- Hypotrichosis simplex
- Dysplasia, mandibuloacral
- Oculocerebrocutaneous syndrome
- Spondyloenchondrodysplasia
- Carnitine palmitoyl transferase 1 deficiency
- Cobb syndrome
- Hereditary sensory and autonomic neuropathy, type 2
- Acrocallosal syndrome, Schinzel type
- Antley-Bixler syndrome
- Midface retraction syndrome, Schinzel-Giedion type
- Perrault syndrome
- Pyogenic arthritis - pyoderma gangrenosum - acne
- Ring chromosome 1
- Björnstad syndrome
- Marshall-Smith syndrome
- Methylcobalamin deficiency, cbl G type
- Osteopetrosis, autosomal dominant, type 1
- Polycystic ovaries - urethral sphincter dysfunction
- Double outlet left ventricle
- Olmsted syndrome
- Segmental odontomaxillary dysplasia
- Argininemia
- CDG syndrome, type Ic
- Intrauterine infection-like syndrome, congenital
- Non-distal trisomy 8q
- Tricho-dento-osseous syndrome
- Agnathia holoprosencephaly situs inversus
- Anophthalmia - hypothalamo-pituitary insufficiency
- Camptodactyly - tall stature - scoliosis - hearing loss
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Cataract cardiomyopathy
- CHILD syndrome
- Dermopathy restrictive, lethal
- Early myoclonic encephalopathy
- Elejalde syndrome
- Geroderma osteodysplastica
- Glossopalatine ankylosis
- Humeroradioulnar synostosis
- Marden-Walker syndrome
- Marshall’s syndrome with periodic fever
- Mevalonicaciduria
- Omodysplasia
- Ophthalmo acromelic syndrome
- Otopalatodigital syndrome
- Perlman syndrome
- Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis
- Scalp-ear-nipple syndrome
- SHORT syndrome
- Triose phosphate-isomerase deficiency
- Weaver syndrome
- Acrofacial dysostosis, postaxial
- Acropectorovertebral dysplasia
- Crisponi syndrome
- Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- Ectodermal dysplasia - absent dermatoglyphs
- Encephalopathy due to hydroxykynureninuria
- Frontometaphyseal dysplasia
- Glycogen storage disease type 7
- Linear atrophoderma of Moulin
- Microcephalic osteodysplastic primordial dwarfism, types 1 and 3
- Nasopalpebral lipoma - coloboma - telecanthus
- Neuroectodermal syndrome, Johnson type
- Neurometabolic disorder due to serine deficiency
- Obesity due to congenital leptin deficiency
- Otospondylomegaepiphyseal dysplasia
- Pontocerebellar hypoplasia type 2
- Pyle disease
- Ring dermoid of cornea
- Spontaneous periodic hypothermia
- Syndactyly, Cenani-Lenz type
- Wrinkly skin syndrome
- Infant epilepsy with migrant focal crisis
- Jalili syndrome
- Leukoencephalopathy with bilateral anterior temporal lobe cysts
- Mosaic variegated aneuploidy syndrome
- Oral-facial-digital syndrome, type 6
- Thalamic calcifications, symmetrical
- Craniolenticulosutural dysplasia
- Hypertrichosis cubiti - short stature
- Catel-Manzke syndrome
- GAPO syndrome
- Geleophysic dwarfism
- Insomnia, familial fatal
- Limb-mammary syndrome
- Methylcobalamin deficiency type cbl E
- 3C syndrome
- Atelosteogenesis, type II
- Book syndrome
- Erythrokeratodermia ataxia
- Keratoderma palmoplantar - spastic paralysis
- Metachondromatosis
- Opsismodysplasia
- Plummer-Vinson syndrome
- Wiedemann-Rautenstrauch syndrome
- Filippi syndrome
- Hepatic veno-occlusive disease - immunodeficiency
- Bartsocas-Papas syndrome
- Distal myopathy with early respiratory muscle involvement
- Infantile onset spinocerebellar ataxia
- Synspondylism
- Bronchobiliary fistula, congenital
- Deletion 2q24
- Johanson-Blizzard syndrome
- Phosphoglycerate kinase 1 deficiency
- Potocki-Shaffer syndrome
- Treft-Sanborn-Carey syndrome
- Acro-pectoral syndrome
- Aortic dilatation- joint hypermobility- arterial tortuosity
- Pierson syndrome
- Split hand - split foot - deafness
- Dehydratase deficiency
- Odonto-tricho-ungual-digito-palmarn syndrome
- Craniodiaphyseal dysplasia
- Fumaric aciduria
- Rubella panencephalitis
- 3-methylglutaconic aciduria, type 1
- Acrorenal syndrome
- Arrhinia
- Calvarial doughnut lesions - bone fragility
- CDG syndrome, type Ib
- Congenital indifference to pain
- Craniofrontonasal dysplasia, Teebi type
- Distal monosomy 8p
- Gray platelet syndrome
- Juvenile temporal arteritis
- Keratosis, Nagashima-type
- Lacrimo-auriculo-dento-digital syndrome
- Lipoamide dehydrogenase deficiency
- PIBIDS syndrome
- Acromegaloid facial appearance syndrome
- Acromegaloid facies - hypertrichosis
- Bronchopneumopathy, chronic, due to TAP deficiency
- Carey-Fineman-Ziter syndrome
- COFS syndrome
- Czech dysplasia, metatarsal type
- Ectodermal dysplasia, ‘’pure’’ hair-nail type
- Epidermolysis bullosa simplex - limb girdle muscular dystrophy
- Hemorrhagic disorders due to collagen receptors deficiency
- Hypertrichosis, anterior cervical, isolated
- Ichthyosis bullosa of Siemens
- IMAGe syndrome
- Interstitial granulomatous dermatitis with arthritis
- Keratosis palmaris et plantaris - clinodactyly
- Laryngeal abductor paralysis - intellectual deficit
- Lipodystrophy, familial partial, Köbberling type
- Metaphyseal anadysplasia
- Orotic aciduria hereditary
- Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
- RAPADILINO syndrome
- Ring chromosome 10
- Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy
- 6q terminal deletion
- Aconitase deficiency
- Amelo-cerebro-hypohidrotic syndrome
- Cavitating leukoencephalopathy, progressive
- Craniosynostosis, Boston type
- Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
- Hypomyelination with atrophy of basal ganglia and cerebellum
- Schopf-Schulz-Passarge syndrome
- Hypertrichotic osteochondrodysplasia
- Terminal osseous dysplasia - pigmentary defects
- Aminopterin embryofetopathy
- Erythroderma, lethal, congenital
- Folate malabsorption, hereditary
- GTP cyclohydrolase I deficiency
- Intellectual deficit, X-linked, with seizures, short stature and midface hypoplasia
- Leukocyte adhesion deficiency, type III
- Malonic aciduria
- Palmoplantar hypokeratosis, circumscribed
- Wolcott-Rallison syndrome
- Acromegaly - cutis verticis gyrata - corneal leukoma
- Glycogen storage, 0 type
- Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
- Intellectual deficit, X-linked, South African type
- Metaphyseal chondrodysplasia, Jansen type
- Microgastria - limb reduction defect
- Myhre syndrome
- Oral-facial-digital syndrome, type 4
- Orbital leiomyoma
- Ablepharon macrostomia syndrome
- Angel-shaped phalango-epiphyseal dysplasia
- Congenital muscular dystrophy due to lamine A/C deficiency
- IBIDS syndrome
- Sensenbrenner syndrome
- Umbilical cord ulceration - intestinal atresia
- Anosmia, isolated, congenital
- Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
- Meacham syndrome
- Mirhosseini-Holmes-Walton syndrome
- Odonto-onycho-dermal dysplasia
- Taurodontia - absent teeth - sparse hair
- Wilson-Turner syndrome
- ADULT syndrome
- Anophthalmia/microphthalmia - esophageal atresia
- Atkin-Flaitz syndrome
- Autosomal recessive limb-girdle muscular dystrophy, type 2G
- Beta-mannosidosis
- DEND syndrome
- Dermo-odonto dysplasia
- Fingerprints, absence of - milia, congenital
- Oligocone trichromacy
- Optic atrophy and cataract, autosomal dominant
- Ring chromosome 17
- Aromatase deficiency
- Charcot-Marie-Tooth disease, type 2H
- Chondrodysplasia, Blomstrand type
- Diaphragmatic hernia - exomphalos - corpus callosum agenesis
- Histiocytosis, progressive mucinous, hereditary
- Hypotelorism - cleft palate - hypospadias
- Posterior column ataxia - retinitis pigmentosa
- Acro-pectoro-renal field defect
- Alopecia- epilepsy - pyorrhea - mental subnormality
- Ataxia - deafness - optic atrophy, lethal
- Atelosteogenesis I
- Atelosteogenesis, type III
- Atrial tachyarrhythmia with short PR interval
- Ballard syndrome
- Coloboma of macula - brachydactyly type B
- Coloboma uveal - cleft lip palate - intellectual deficit
- Distal myopathy with posterior leg and anterior upper limb involvement
- Distal myopathy with vocal cord weakness
- Dopamine beta-hydroxylase deficiency
- Hemolytic anemia due to adenylate kinase deficiency
- Hypoparathyroidism - deafness - renal disease
- Intellectual deficit, X-linked - macrocephaly - macroorchidism
- N-acetyl-alpha-D-galactosaminidase deficiency
- Osteocraniostenosis
- Winchester disease
- Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges
- Atrial septal defect - atrioventricular conduction defects
- Corpus callosum dysgenesis, X-linked recessive
- Fibrochondrogenesis
- Fibular dimelia - diplopodia
- Foveal hypoplasia - presenile cataract
- Fuhrmann syndrome
- Intellectual deficit, X-linked, Snyder type
- Juvenile polyposis of infancy
- Lopez-Hernandez syndrome
- Martinez-Frias syndrome
- Necrotizing encephalopathy, acute, autosomal dominant
- PELVIS syndrome
- Pterygium syndrome, antecubital
- Trichomegaly - retina pigmentary degeneration - dwarfism
- CHAND syndrome
- Chediak-Higashi syndrome
- Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps
- Acromesomelic dysplasia, Hunter-Thomson type
- Arthrogryposis multiplex congenita - whistling face
- Athabaskan brainstem dysgenesis syndrome
- Barber-Say syndrome
- Boomerang dysplasia
- Cardiac conduction disease, dilated cardiomyopathy and brachydactyly
- Cataract - intellectual deficit - hypogonadism
- Cerebro-oculo-nasal syndrome
- Char syndrome
- Charcot-Marie-Tooth disease - nephropathy
- Charcot-Marie-Tooth disease, type 4H
- Choroido cerebral calcification syndrome, infantile form
- Colobomatous - microphthalmia - heart disease - hearing loss
- Deletion 2q37
- Diffuse palmoplantar keratoderma - acrocyanosis
- Distal asymmetrical inflammatory myopathy of the upper limbs
- Distal monosomy 5q
- Ectodermal dysplasia - skin fragility syndrome
- Flynn-Aird syndrome
- Goldberg-Shprintzen megacolon syndrome
- Hyperkeratosis - hyperpigmentation syndrome
- Hypomyelination - congenital cataract
- Ichthyosis follicularis - atrichia - photophobia
- Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior
- Intellectual deficit, X-linked, syndromic 7
- Iris coloboma with ptosis - intellectual deficit
- Juberg-Hayward syndrome
- Lipodystrophy, familial partial, associated with PPARG mutations
- Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
- Neurodegenerative syndrome, X-linked, Hamel type
- Nevo syndrome
- Pollitt syndrome
- Progressive vertebral fusion, non-infectious, syndromic form
- Pseudodiastrophic dysplasia
- Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
- Succinyl-CoA acetoacetate transferase deficiency
- Toriello-Lacassie-Droste syndrome
- Aase-Smith syndrome
- Acrofacial dysostosis, Rodriguez type
- Acromelanosis
- Astley-Kendall dysplasia
- Cardiocranial syndrome, Pfeiffer type
- Carpotarsal osteochondromatosis
- Carpotarsal osteolysis, recessive
- Cerebral gigantism - jaw cysts
- Corneal dystrophy - perceptive deafness
- Deafness - lymphedema - leukemia
- Diaphanospondylodysostosis
- Digitorenocerebral syndrome
- Encephalopathy due to prosaposin deficiency
- Gaucher disease - ophthalmoplegia - cardiovascular calcification
- Glomerulonephritis - sparse hair - telangiectasis
- Greenberg dysplasia
- Hypopituitarism - microphthalmia
- Larsen-like syndrome, lethal form
- Leukocyte adhesion deficiency, type II
- Lowry-Wood syndrome
- Myoclonus hereditary - progressive distal muscular atrophy
- Neonatal ichthyosis - sclerosing cholangitis
- Pacman dysplasia
- Palmoplantar porokeratosis of Mantoux
- Pancreatic hypoplasia - diabetes - heart disease
- Perioral myoclonia with absences
- Phosphoenolpyruvate carboxykinase (PEPCK) deficiency
- Progeria - short stature - pigmented nevi
- Pseudo-Zellweger syndrome
- Singleton-Merten dysplasia
- Thoracolaryngopelvic dysplasia
- XK aprosencephaly
- Ataxia - apraxia - intellectual deficit, X-linked
- Atransferrinemia
- Bosley-Salih-Alorainy syndrome
- Brachymorphism - onychodysplasia - dysphalangism
- Cardiac anomalies - heterotaxy
- Cardiac anomalies - heterotaxy
- Cardiomyopathy - cataract - hip spine disease
- Gamma-glutamylcysteine synthetase deficiency
- Guanidinoacetate methyltransferase deficiency
- Intellectual deficit, X-linked, Shashi type
- Laminopathy, type Decaudain-Vigouroux
- Macrostomia - preauricular tags - external ophthalmoplegia
- Methylmalonicacidemia - homocystinuria, type cbl F
- Microdontia - type I microtia - deafness
- Oculocerebrofacial syndrome, Kaufman type
- Tricho-retino-dento-digital syndrome
- 5-oxoprolinase deficiency
- Ackerman syndrome
- Ankylosing vertebral hyperostosis with tylosis
- Ataxia-deafness-retardation syndrome
- Brachydactyly - preaxial hallux varus
- Campomelia, Cumming type
- Camptodactyly syndrome, Guadalajara type 1
- COACH syndrome
- Corpus callosum, agenesis - cataract - immunodeficiency
- Deafness - skeletal dysplasia - lip granuloma
- Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures
- Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
- Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
- Intellectual deficit, X-linked, Abidi type
- Intellectual deficit, X-linked, Vitale type
- Kallmann syndrome - heart disease
- Lelis syndrome
- Leukoencephalopathy - ataxia - hypodontia - hypomyelination
- Micro syndrome
- Pancreas agenesis
- Spondylometaphyseal dysplasia - cone-rod dystrophy
- Acro-renal-mandibular syndrome
- Albinism ocular - late onset sensorineural deafness
- Brachydactyly A6
- Cardiogenital syndrome
- CDG syndrome, type Ie
- CEDNIK syndrome
- Cleft palate-lateral synechia syndrome
- Dihydropyrimidinuria
- Ehlers-Danlos syndrome, type 7C
- Gamma-glutamyl transpeptidase deficiency
- Genitopatellar syndrome
- Hyperostotic dwarfism, Lenz-Majewski type
- Intellectual deficit, X-linked, severe, Gustavson type
- Mandibulofacial dysostosis, X-linked
- MEHMO syndrome
- Michels syndrome
- Mitochondrial myopathy with sideroblastic anemia
- Multiple fibrofolliculoma, familial
- Neurodegenerative syndrome, X-linked, Bertini type
- Obesity due to pro-opiomelanocortin deficiency
- Retinal degeneration - nanophtalmos - glaucoma
- Retinohepatoendocrinologic syndrome
- Stern-Lubinsky-Durrie syndrome
- Torticollis - keloids - cryptorchidism - renal dysplasia
- X-linked severe congenital neutropenia
- 3-hydroxy 3-methylglutaryl-CoA (HMG) synthase deficiency
- Acrofacial dysostosis, Catania type
- Agonadism - dextrocardia - diaphragmatic hernia
- Aplasia cutis congenita of limbs recessive
- Biliary tract malformation - renal failure
- Blepharophimosis - ptosis - esotropia - syndactyly - short stature
- CDG syndrome, type Ig
- Cold-induced sweating syndrome
- Cutis gyrata - acanthosis nigricans - craniosynostosis
- Deafness - enamel hypoplasia - nail defects
- Ectodermal dysplasia, hidrotic, Christianson-Fourie type
- Ehlers-Danlos syndrome, spondylocheiro dysplastic type
- Eiken syndrome
- Epilepsy telangiectasia
- Fanconi ichthyosis dysmorphism
- Grange syndrome
- Hartsfield-Bixler-Demyer syndrome
- Hypopituitarism - postaxial polydactyly
- Intellectual deficit - sparse hair - brachydactyly
- Intellectual deficit, X-linked - psychosis - macroorchidism
- Intellectual deficit, X-linked, Armfield type
- Intellectual deficit, X-linked, Zorick type
- Isotretinoin-like syndrome
- Keratosis follicularis - dwarfism - cerebral atrophy
- Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus
- Moore-Federman syndrome
- Polysyndactyly - cardiac malformation
- Serpentine fibula - polycystic kidneys
- Spasticity - intellectual deficit - epilepsy, X-linked
- Stormorken-Sjaastad-Langslet syndrome
- Symphalangism with multiple anomalies of hands and feet
- Syndactyly - telecanthus - anogenital and renal malformations
- Thumb stiffness - brachydactyly - intellectual deficit
- W syndrome
- Wieacker-Wolff syndrome
- Zunich-Kaye syndrome
- Achalasia - microcephaly
- Acro-fronto-facio-nasal dysostosis
- Adducted thumbs-arthrogryposis, Dundar type
- Alopecia - contractures - dwarfism - intellectual deficit
- ANE syndrome
- Anonychia microcephaly
- Arachnodactyly - ossification abnormal - intellectual deficit
- Ataxia, spinocerebellar, X-linked, type 3
- Aurocephalosyndactyly
- Bamforth syndrome
- Beta-ureidopropionase deficiency
- Bradyopsia
- Branchiogenic deafness syndrome
- CAMOS syndrome
- CDG syndrome, type Id
- CDG syndrome, type Ih
- Charcot-Marie-Tooth disease, type 4J
- Choanal atresia - deafness - cardiac defects - dysmorphism
- Cholestasis pigmentary - retinopathy - cleft palate
- Cleft palate - cardiac defect - genital anomalies - ectrodactyly
- Craniodigital syndrome - intellectual deficit
- Craniosynostosis - dysmorphism - brachydactyly
- Curry-Jones syndrome
- Dacryocystitis - osteopoikilosis
- Depigmentation of the iris, acute, bilateral
- Dermatoosteolysis, Kirghizian type
- Ectrodactyly - ectodermal dysplasia without clefting
- Fine-Lubinsky syndrome
- Frank-Ter Haar syndrome
- German syndrome
- Glaucoma - sleep apnoea
- Humerospinal dysostosis
- Humeroulnar synostosis
- Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
- Ichthyosis - male hypogonadism
- Intellectual deficit, X-linked - choreoathetosis - abnormal behavior
- Intellectual deficit, X-linked - cubitus valgus - dysmorphism
- Intellectual deficit, X-linked, Lubs type
- Lissencephaly, type III - familial fetal akinesia sequence
- Lymphedema - cerebral arteriovenous anomaly
- Macrothrombocytopenia with abnormal proplatelet formation, autosomal dominant
- Matthew-Wood syndrome
- Methylmalonicacidemia - homocystinuria, type cbl D
- Mononen-Karnes-Senac syndrome
- Nephropathy - deafness - hyperparathyroidism
- Nephrosis - deafness - urinary tract - digital malformations
- Oculo-palato-cerebral syndrome
- Odontomicronychial dysplasia
- Onycho-tricho-dysplasia - neutropenia
- P2Y12, deficiency of
- Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
- Paraplegia - brachydactyly - cone-shaped epiphysis
- Pyknoachondrogenesis
- Sacral hemangiomas - multiple congenital abnormalities
- Sillence syndrome
- Woods-Black-Norbury syndrome
- Cystic hamartoma of lung and kidney
- Lathosterolosis
- Sakati-Nyhan syndrome
- Abruzzo-Erickson syndrome
- Acrofacial dysostosis, palagonia type
- Anophthalmia plus syndrome
- Aortic arch anomaly - peculiar facies - intellectual deficit
- Aplasia cutis - myopia
- Arhinia - choanal atresia - microphthalmia
- Arterial dissection - lentiginosis
- Autism - facial port-wine stain
- Autosomal dominant multiple pterygium syndrome
- Benign exophthalmos syndrome
- Bilateral microtia - deafness - cleft palate
- Bile acid synthesis defect, congenital, type 4
- Bone dysplasia, lethal, Holmgren type
- Bone fragility - craniosynostosis - proptosis - hydrocephalus
- Bonnemann-Meinecke-Reich syndrome
- Brachydactyly - long thumb
- Cantu syndrome
- CDG syndrome, type If
- CDG syndrome, type IIa
- CDG syndrome, type Ik
- Chondrodysplasia, lethal recessive
- Choroideremia - deafness - obesity
- Cleft lip/palate - intestinal malrotation - cardiopathy
- Coxoauricular syndrome
- Cranio osteoarthropathy
- Craniosynostosis dandy walker hydrocephalus
- Deafness - peripheral neuropathy - arterial disease
- Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis
- Diaphragmatic defect - limb deficiency - skull defect
- Duker-Weiss-Siber syndrome
- Ectodermal dysplasia, Berlin type
- Ectodermal dysplasia, hidrotic, Halal type
- Ectopia lentis - chorioretinal dystrophy - myopia
- Endosteal sclerosis - cerebellar hypoplasia
- Facial onset sensory and motor neuronopathy
- Familial caudal dysgenesis
- Gombo syndrome
- Gorlin-Chaudhry-Moss syndrome
- Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
- Growth delay due to insulin-like growth factor I deficiency
- Growth retardation - microcephaly - digital abnormalities - hypospadias
- Hereditary sensory and autonomic neuropathy with deafness and global delay
- Hirschsprung disease - type D brachydactyly
- Homocarnosinosis
- Hypogammaglobulinemia due to CD19 deficiency
- Hypomandibular faciocranial dysostosis
- Hypomyelination - hypogonadotropic hypogonadism - hypodontia
- Hypomyelination - hypogonadotropic hypogonadism - hypodontia
- Hypotrichosis - lymphedema - telangiectasia
- Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit
- Immunodeficiency with natural-killer cell deficiency
- Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus
- Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature
- Intellectual deficit, X-linked - seizures - psoriasis
- Intellectual deficit, X-linked, Miles-Carpenter type
- Intellectual deficit, X-linked, Schimke type
- Intellectual deficit, X-linked, Seemanova type
- Intellectual deficit, X-linked, Siderius type
- Intellectual deficit, X-linked, Stevenson type
- Intellectual deficit, X-linked, Stocco Dos Santos type
- Intellectual deficit, X-linked, Stoll type
- Leukodystrophy with oligodontia
- Leukoencephalopathy - metaphyseal chondrodysplasia
- Leukoencephalopathy - palmoplantar keratoderma
- Macrogyria pseudobulbar palsy
- Malignant hyperthermia - arthrogryposis - torticollis
- Metaphyseal acroscyphodysplasia
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Microcephaly - micropenis - convulsions
- Myoclonus - cerebellar ataxia - deafness
- Myopathy due to calsequestrin and SERCA1 protein overload
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neuroectodermal-endocrine syndrome
- Oculo-oto-facial dysplasia
- Odontotrichomelic syndrome
- Oral-facial-digital syndrome, type 5
- Osteopoikilosis - short stature - intellectual deficit
- Palmoplantar keratoderma - amyotrophy
- Paraplegia - intellectual deficit - hyperkeratosis
- Pelviscapular dysplasia
- Recurrent infections - short stature - hypopigmentation - coarse face
- Rolled and spiral hairs - palmoplantar keratoderma
- Severe achondroplasia - developmental delay - acanthosis nigricans
- Short stature - webbed neck - heart disease
- Simpson-Golabi-Behmel syndrome, type 2
- Sparse hair - short stature - skin anomalies
- Spastic paraplegia - nephritis - deafness
- Spondylometaphyseal dysplasia with combined immunodeficiency
- Syndactyly, type 4
- Tomé-Brunet-Fardeau syndrome
- Tricho-odonto-onychial dysplasia
- Acromesomelic dysplasia brahimi bacha type
- Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
- Al-Gazali-Dattani syndrome
- Amelia, autosomal recessive
- Aniridia - absent patella
- Aniridia - ptosis - intellectual deficit - obesity, familial form
- Anonychia with flexural pigmentation
- Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
- Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
- Aplasia cutis congenita - intestinal lymphangiectasia
- Arachnodactyly - intellectual deficit - dysmorphism
- AREDYLD syndrome
- Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities
- Blepharoptosis - myopia - ectopia lentis
- Branchio-skeleto-genital syndrome
- Buttiens-Fryns syndrome
- Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia
- Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency
- Cataract - deafness - hypogonadism
- Cervical hypertrichosis - peripheral neuropathy
- CODAS syndrome
- Cortical blindness - intellectual deficit - polydactyly
- Craniofacial dysmorphism - coloboma - corpus callosum agenesis
- Craniofacial-deafness-hand syndrome
- Craniofrontonasal dysplasia - Poland anomaly
- Craniosynostosis - intracranial calcifications
- Cutaneous albinism, ermine phenotype
- Cutaneous photosensitivity - colitis, lethal
- Deafness - opticoacoustic nerve atrophy - dementia
- Deafness-intellectual deficit, Martin-Probst type
- Deafness-intellectual deficit, Martin-Probst type
- Disorder of sex development - intellectual deficit
- Ectodermal dysplasia, hypohidrotic - hypothyroidism - ciliary dyskinesia
- Ectodermic dysplasia hypothyroidism cleft
- Enterocyte heparan sulphate deficiency, congenital
- Eyebrow duplication - syndactyly
- Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
- Faciocardiomelic dysplasia, lethal
- Gardner-Morrison-Abbott syndrome
- Glaucoma - ectopia - microspherophakia - stiff joints - short stature
- Global developmental delay - osteopenia - ectodermal defect
- Goodman syndrome
- Hair defect - photosensitivity - intellectual deficit
- Hemolytic anemia due to glutathione reductase deficiency
- Hirschsprung disease - nail hypoplasia - dysmorphism
- Hypogonadism - retinitis pigmentosa
- Hypotonia with lactic acidemia and hyperammonemia
- Intellectual deficit - hypoplastic corpus callosum - preauricular tag
- Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
- Intellectual deficit, X-linked - precocious puberty - obesity
- Intellectual deficit, X-linked, Shrimpton type
- Intellectual deficit, X-linked, Wilson type
- Intellectual deficit, X-linked, Wittwer type
- Intractable diarrhea - choanal atresia - eye anomalies
- Lewis-Pashayan syndrome
- Lipodystrophy - intellectual deficit - deafness
- Lumbosacral vertebrae, posterior fusion of - blepharoptosis
- Lymphedema - atrial septal defects - facial changes
- Malabsorptive diarrhea due to paucity of enteroendocrine cells, congenital
- Microcephaly - brachydactyly - kyphoscoliosis
- Microcephaly - cardiomyopathy
- Microcephaly - cleft palate
- Microcephaly - intellectual deficit - phalangeal and neurological anomalies
- Microcytic anemia with liver iron overload
- Microphthalmia - brain atrophy
- Mitral regurgitation - deafness - skeletal anomalies
- Mullerian derivatives - lymphangiectasia - polydactyly
- N syndrome
- Nail patella-like - renal disease
- Nanism due to growth hormone qualitative anomaly
- Neuroaxonal dystrophy - renal tubular acidosis
- Oculoosteocutaneous syndrome
- Omphalocele-cleft palate syndrome, lethal
- Oral-facial-digital syndrome, type 3
- Osteogenesis imperfecta, congenital - microcephaly - cataracts
- Osteoporosis-oculocutaneous-hypopigmentation syndrome
- Osteosclerosis - ichthyosis - premature ovarian failure
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
- Qazi-Markouizos syndrome
- Rambaud-Galian syndrome
- Seizures - intellectual deficit due to hydroxylysinuria
- Sensorineural hearing loss, early greying, and essential tremor
- SERKAL syndrome
- Short stature - intellectual deficit - eye anomalies - cleft/lip palate
- Split hand - urinary anomalies - spina bifida
- Summitt syndrome
- Thumb absent - short stature - immune deficiency
- Thymic-renal-anal-lung dysplasia
- Trigonocephaly - short stature - developmental delay
- Ulbright-Hodes syndrome
- 46,XX disorder of sex development - skeletal anomalies
- Acrocraniofacial dysostosis
- Acrofacial dysostosis, autosomal recessive
- Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
- Alar cartilages hypoplasia - coloboma - telecanthus
- Alopecia - hypogonadism - extrapyramidal disorder
- Amaurosis - hypertrichosis
- Aniridia - renal agenesis - psychomotor retardation
- Aniridia-intellectual deficit syndrome
- Arthrogryposis - hyperkeratosis, lethal form
- Atherosclerosis- deafness - diabetes - epilepsy - nephropathy
- Aughton syndrome
- Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
- Auriculoocular anomalies - cleft lip
- Bangstad syndrome
- Beemer-Ertbruggen syndrome
- Blepharo-facio-skeletal syndrome
- Bouwes-Bavinck syndrome
- Brachytelephalangy - dysmorphism - Kallmann syndrome
- Braddock syndrome
- Brain dysgenesis due to glutamine synthetase deficiency, congenital
- Brain malformation - congenital heart disease - postaxial polydactyly
- Camptodactyly syndrome, Guadalajara type 2
- Cardiomyopathy - renal anomalies
- Cataract - microphthalmia - septal defect
- Cataract - nephropathy - encephalopathy
- Cataract- ataxia - deafness
- CDG syndrome, type IIe
- CDG syndrome, type IIh
- CDG syndrome, type IL
- Chondrodysplasia - disorder of sex development
- Choroidal atrophy - alopecia
- Cleft lip - retinopathy
- Cleft lip/palate - intellectual deficit - corneal opacities
- Cleft palate - short stature - vertebral anomalies
- Cleft palate - stapes fixation - oligodontia
- Cleido rhizomelic syndrome
- Contractures - ectodermal dysplasia - cleft lip/palate
- Cooper-Jabs syndrome
- Corneal anesthesia - deafness - intellectual deficit
- Corneal-cerebellar syndrome
- Craniodiaphyseal dysplasia, autosomal dominant
- Craniosynostosis - fibular aplasia
- Craniosynostosis-radial aplasia, Imaizumi type
- Cryptomicrotia - brachydactyly - excess fingertip arch
- Cystic hygroma, lethal - cleft palate
- Dahlberg-Borer-Newcomer syndrome
- Dandy-Walker malformation - macrocephaly
- Dandy-Walker malformation - polydactyly, postaxial
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness - genital anomalies - metacarpal and metatarsal synostosis
- Deafness - vitiligo - achalasia
- Deafness-tubular acidosis-anemia
- Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
- Dermato-cardio-skeletal syndrome, Borrone type
- Dermatoleukodystrophy
- Desmosterolosis
- Developmental malformations - deafness - dystonia
- Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
- Dincsoy-Salih-Patel syndrome
- Duane anomaly - myopathy - scoliosis
- Dysmorphism - short stature - deafness - disorder of sex development
- Ectodermal dysplasia - anhidrotic, with immunodeficiency - osteopetrosis - lymphedema
- Ectodermal dysplasia - blindness
- Eng-Strom syndrome
- Epilepsy - microcephaly - skeletal dysplasia
- Epithelio-exfoliative colitis - deafness
- Fuqua-Berkovitz syndrome
- Gamma aminobutyric acid transaminase deficiency
- Gonadal dysgenesis, XY type - associated anomalies
- Heart defects - limb shortening
- HEC syndrome
- Hemolytic anemia, lethal - genital anomalies
- Hennekam-Beemer syndrome
- Hersh-Podruch-Weisskopf syndrome
- Hirschsprung disease - deafness - polydactyly
- Hydrocephaly - tall stature - joint laxity
- Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency
- Hypomagnesemia with normocalciuria
- Hypospadias-hypertelorism-coloboma and deafness
- Hypotrichosis-intellectual deficit, Lopes type
- Ichthyosis - hepatosplenomegaly - cerebellar degeneration
- Ichthyosis - oral and digital anomalies
- Ichthyosis congenita - biliary atresia
- Ichthyosis, congenital - microcephalus - quadriplegia
- Inappropriate antidiuretic hormone secretion syndrome
- Intellectual deficit, severe - epilepsy - anal anomalies - distal phalangeal hypoplasia
- Intellectual deficit, X-linked - acromegaly - hyperactivity
- Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism
- Intellectual deficit, X-linked - plagiocephaly
- Intellectual deficit, X-linked, Cantagrel type
- Intellectual deficit, X-linked, Reish type
- Iris dysplasia - hypertelorism - deafness
- Kaler-Garrity-Stern syndrome
- Kapur-Toriello syndrome
- Keratoderma - hypotrichosis - leukonychia
- Kniest-like dysplasia, lethal form
- Kozlowski-Brown-Hardwick syndrome
- Kudo-Tamura-Fuse syndrome
- Lichstenstein syndrome
- Lissencephaly, type III - metacarpal bone dysplasia
- Low birth weight - dwarfism - dysgammaglobulinemia
- Lung fibrosis - immunodeficiency - gonadal dysgenesis
- Macrocephaly - immune deficiency - anemia
- Macrocephaly - short stature - paraplegia
- Mesomelic dysplasia - skin dimples
- Methylmalonic aciduria - microcephaly - cataract
- Microbrachycephaly - ptosis - cleft lip
- Microcephaly - digital anomalies - intellectual deficit
- Microcephaly - glomerulonephritis - marfanoid habitus
- Microcephaly - seizures - intellectual deficit - heart disease
- Microlissencephaly - micromelia
- Mitochondrial encephalomyopathy aminoacidopathy
- Monosomy 9q22.3
- Multiple sclerosis - ichthyosis - factor VIII deficiency
- Nephronophtisis familial, adult form - spastic quadriparesia
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
- Obesity due to prohormone convertase-I deficiency
- Oculotrichodysplasia
- Okamoto syndrome
- Ossification anomalies - psychomotor development delay
- Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
- Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
- PARC syndrome
- Pierre Robin sequence - faciodigital anomaly
- Pilodental dysplasia - refractive errors
- Progressive neurodegeneration - joint laxity - cataract
- Pseudoprogeria syndrome
- Pterygium colli - intellectual deficit - digital anomalies
- Ptosis - strabismus - rectus abdominis diastasis
- Resistance to thyrotropin-releasing hormone syndrome
- Robinow-like syndrome
- Rudiger syndrome
- Say-Barber-Miller syndrome
- Scalp defects - postaxial polydactyly
- SCARF syndrome
- Short stature, Brussels type
- Siegler-Brewer-Carey syndrome
- Small vessel disease of the brain, not NOTCH3-related
- Spastic paraplegia - precocious puberty
- Spastic quadriplegia - retinitis pigmentosa - intellectual deficit
- Spinal muscular atrophy - Dandy-Walker complex - cataracts
- Stimmler syndrome
- Stoll-Alembik-Finck syndrome
- Syngnathia multiple anomalies
- Talo-patello-scaphoid osteolysis
- Teebi-Shaltout syndrome
- Thrombocytopenia - Robin sequence
- Thyrocerebrorenal syndrome
- Trichomegaly - cataract - spherocytosis, hereditary
- Trigonocephaly - bifid nose - acral anomalies
- Trigonocephaly - broad thumbs
- Tubular renal disease - cardiomyopathy
- Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
- Weaver-Williams syndrome
- Xeroderma - talipes - enamel defects
- Zellweger-like syndrome, without peroxisomal anomalies
- Acrofacial dysostosis postaxial, atypical
- Blaichman syndrome
- Bone dysplasia, Azouz type
- Cataract - hypertrichosis - intellectual deficit
- CDG syndrome, type Ii
- CDG syndrome, type IIb
- CDG syndrome, type IId
- CDG syndrome, type Ij
- Chondrodysplasia - situs inversus - imperforate anus - polydactyly
- Ectodermal dysplasia - arthrogryposis - diabetes mellitus
- Hyaluronidase deficiency
- Nevus of ota - retinitis pigmentosa
- Oral-facial-digital syndrome, type 10
- Stoll-Alembik-Finck syndrome
- Zadik-Barak-Levin syndrome
- Li-Fraumeni syndrome
- Nance-Horan syndrome
- Autosomal recessive limb-girdle muscular dystrophy, type 2l
- Granulomatous arthritis of childhood
- LCAT deficiency
- Primary erythermalgia
- Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
- Pericarditis - arthropathy - camptodactyly
- Phosphoribosylpyrophosphate synthetase superactivity
- Giant axonal neuropathy
- Multiple synostoses
- Overhydrated hereditary stomatocytosis
- Acro-renal-ocular syndrome
- Autosomal dominant spastic paraplegia, type 17
- Fahr syndrome
- Familial platelet syndrome with predisposition to acute myelogenous leukemia
- Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
- Ichthyosis prematurity syndrome
- X-linked myopathy with excessive autophagy
- Familial platelet syndrome with predisposition to acute myelogenous leukemia
- Marie Unna congenital hypotrichosis
- Charcot-Marie-Tooth disease, type 4B1
- Aniridia - cerebellar ataxia - mental deficiency
- Brachydactyly - arterial hypertension
- Aortic aneurysm syndrome, Loeys-Dietz type
- Autosomal dominant spastic paraplegia, type 6
- Benign familial neonatal-infantile seizures
- Renpenning syndrome
- Acheiropodia
- Angioma neurocutaneous, hereditary
- Autosomal dominant spastic paraplegia, type 10
- Autosomal dominant spastic paraplegia, type 12
- Autosomal dominant spastic paraplegia, type 13
- Autosomal dominant spastic paraplegia, type 8
- Autosomal recessive spastic paraplegia, type 15
- Focal facial dermal dysplasia
- Hypoparathyroidism, familial, isolated
- Intellectual deficit, X-linked, syndromic, due to JARID1C mutation
- Keratoderma palmoplantar - deafness
- Keratosis palmoplantaris - esophageal carcinoma
- Schinzel syndrome
- Sebastian syndrome
- VACTERL with hydrocephalus
- Otodental syndrome
- Ankyloblepharon - ectodermal defects - cleft lip palate
- Cataract-microcornea syndrome
- Osteosclerotic bone dysplasia, lethal
- EEM syndrome
- Immune dysregulation - polyendocrinopathy - enteropathy, X-linked
- Macular degeneration, juvenile - hypotrichosis
- Cystoid macular dystrophy
- Developmental dysphasia familial
- Excessive growth - learning disabilities - facial dysmorphism
- Pontocerebellar hypoplasia type 1
- Stapes ankylosis with broad thumbs and toes
- Encephalopathy with neuroserpin inclusion bodies, familial form
- Anemia, sideroblastic, X-linked - ataxia
- Autosomal dominant limb-girdle muscular dystrophy, type 1D
- Autosomal dominant limb-girdle muscular dystrophy, type 1E
- Tetraamelia - pulmonary hypoplasia
- Symphalangism, distal
- Trichodental syndrome
- Camptodactyly - taurinuria
- IVIC syndrome
- Paroxysmal extreme pain disorder
- Reducing body myopathy
- Triphalangeal thumbs - brachyectrodactyly
- Adducted thumbs - arthrogryposis, Christian type
- Ataxia, cerebellar, autosomal recessive - blindness - deafness
- CAMFAK syndrome
- Cataract-glaucoma
- Cerebroretinal vasculopathy
- Craniorhiny
- Deafness-infertility syndrome
- Dystonia, mixed
- HERNS syndrome
- Hypomagnesemia with hypocalciuria
- Intellectual deficit, X-linked, with isolated growth hormone deficiency
- Rapid-onset dystonia-parkinsonism
- Ankyloblepharon filiforme - imperforate anus
- Ataxia, episodic, type 4
- Auriculoosteodysplasia
- Autosomal dominant Charcot-Marie-Tooth disease, type 2F
- Autosomal recessive spastic paraplegia, type 26
- Autosomal recessive spastic paraplegia, type 27
- Autosomal recessive spastic paraplegia, type 39
- Bakrania-Ragge syndrome
- Bencze syndrome
- Blepharonasofacial malformation syndrome
- Brachydactyly, type A5
- Bullous dystrophy, macular type
- Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
- Chorioretinal atrophy, progressive bifocal
- Earlobes, thickened - conductive deafness
- Ehlers-Danlos syndrome, type 5
- Gingival fibromatosis - progressive deafness
- Growth deficiency - brachydactyly - dysmorphism
- Hypoparathyroidism, X-linked
- Jackson-Weiss syndrome
- Mesoaxial synostotic syndactyly with phalangeal reduction
- North Carolina macular dystrophy
- Oral-facial-digital syndrome, type 8
- Partington syndrome
- Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
- Skeletal dysplasia - intellectual deficit
- Spastic paraplegia - glaucoma - intellectual deficit
- Albinism-deafness syndrome
- Alopecia - congenita keratosis palmoplantaris
- Aphalangy - syndactyly - microcephaly
- Arthrogryposis-like hand anomaly - sensorineural deafness
- Ataxia, cerebellar, autosomal recessive - saccadic intrusion
- Ataxia, episodic, type 3
- Autosomal dominant Charcot-Marie-Tooth disease, type 2G
- Autosomal dominant Charcot-Marie-Tooth disease, type 2K
- Autosomal dominant Charcot-Marie-Tooth disease, type 2L
- Autosomal dominant limb-girdle muscular dystrophy, type 1A
- Autosomal dominant limb-girdle muscular dystrophy, type 1F
- Autosomal dominant limb-girdle muscular dystrophy, type 1G
- Autosomal dominant spastic paraplegia, type 29
- Autosomal dominant spastic paraplegia, type 9
- Autosomal recessive spastic paraplegia, type 14
- Autosomal recessive spastic paraplegia, type 23
- Autosomal recessive spastic paraplegia, type 24
- Autosomal recessive spastic paraplegia, type 25
- Autosomal recessive spastic paraplegia, type 28
- Autosomal recessive spastic paraplegia, type 30
- Banki syndrome
- Brachydactyly - nystagmus - cerebellar ataxia
- Brachydactyly, type A7
- Camptobrachydactyly
- Charcot-Marie-Tooth disease, type 2B2
- Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
- Costocoracoid ligament, congenitally short
- Craniofacial conodysplasia
- Craniosynostosis, Philadelphia type
- Cyprus facial-neuromusculoskeletal syndrome
- Dyschondrosteosis - nephritis
- Ehlers-Danlos syndrome, type 10
- Fried syndrome
- Hereditary vascular retinopathy
- Hereditary vascular retinopathy
- Hydrocephalus - blue sclerae - nephropathy
- Insulin resistance, short fifth metacarpals
- Intellectual deficit - progressive spasticity, X-linked
- Intellectual deficit, X-linked - Spastic paraplegia with iron deposits
- Intellectual deficit, X-linked, Cabezas type
- Intellectual deficit, X-linked, Pai type
- Intellectual deficit, X-linked, recessive - macrocephaly - ciliary dysfunction
- Kumar-Levick syndrome
- Lipodystrophy, familial partial, due to AKT2 mutations
- Microtia - eye coloboma - imperforation of the nasolacrimal duct
- Neuropathy with hearing impairment
- Oculodental syndrome, Rutherfurd type
- Oculogastrointestinal muscular dystrophy
- Pili torti - onychodysplasia
- Ptosis - strabismus - ectopic pupils
- Schizophrenia - intellectual deficit - deafness - retinitis
- Short stature - pituitary and cerebellar defects - small sella turcica
- Steroid dehydrogenase deficiency - dental anomalies
- Tietz syndrome
- Trichodysplasia - amelogenesis imperfecta
- Ulnar/fibula ray defect - brachydactyly
- Upington disease
- Van den Bosch syndrome
- Woolly hair - hypotrichosis - everted lower lip - outstanding ears
- X-linked hereditary sensory and autonomic neuropathy with deafness
- X-linked spastic paraplegia, type 16