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Draft link
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Notes
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Wikidata item
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Possible matches
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Comments
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| SLC6A1 mutations SLC6A1 epileptic encephalopathy |
Draft:SLC6A1 mutations |
neurodevelopmental epileptic syndrome |
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https://rarediseases.org/rare-diseases/slc6a1-epileptic-encephalopathy/ |
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| SATB2-associated syndrome |
Draft:SATB2-associated syndrome |
other names 2q32 deletion syndrome, 2q33.1 microdeletion syndrome, chromosome 2q32-q33 deletion syndrome, Glass syndrome, SAS |
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?https://rarediseases.info.nih.gov/diseases/13206/index, ?https://medlineplus.gov/genetics/condition/satb2-associated-syndrome/ |
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| Chromosome deletion 5q15-23.1 |
Draft:Chromosome deletion 5q15-23.1 |
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| KAT6A syndrome |
Draft:KAT6A syndrome |
(symptoms include: PMLD, Variable Tone, Hyper-flexibility, Multi sensory Impairment) |
?d:Q50349636 |
https://rarediseases.org/rare-diseases/kat6a-syndrome/, ?https://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=457193 |
de:Arboleda-Tham-Syndrom
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| KCNQ2 developmental and epileptic encephalopathy |
Draft:KCNQ2 developmental and epileptic encephalopathy |
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? d:Q61913478 |
https://rarediseases.org/rare-diseases/kcnq2-encephalopathy/, ?https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439218, https://rarediseases.info.nih.gov/diseases/13060/index |
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| SLC13A5 citrate transporter disorder |
Draft:SLC13A5 citrate transporter disorder |
Early infantile epileptic encephalopathy 25, Kohlschütter-Tönz syndrome (non-ROGDI), GARD: 12901, OMIM: 608305 |
d:Q55784807 |
https://rarediseases.org/rare-diseases/slc13a5-epileptic-encephalopathy/ |
Kohlschütter-Tönz syndrome
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| SPG15 (disease) |
Draft:SPG15 SPG11 |
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| HNRNPH2-related disorders |
Draft:HNRNPH2-related disorders |
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