User:Charles Matthews/Healx event editathon

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Link Draft link Notes Wikidata item Possible matches Comments
SLC6A1 mutations

SLC6A1 epileptic encephalopathy

 Draft:SLC6A1 mutations neurodevelopmental epileptic syndrome https://rarediseases.org/rare-diseases/slc6a1-epileptic-encephalopathy/
SATB2-associated syndrome Draft:SATB2-associated syndrome other names 2q32 deletion syndrome, 2q33.1 microdeletion syndrome, chromosome 2q32-q33 deletion syndrome, Glass syndrome, SAS ?https://rarediseases.info.nih.gov/diseases/13206/index, ?https://medlineplus.gov/genetics/condition/satb2-associated-syndrome/
Chromosome deletion 5q15-23.1 Draft:Chromosome deletion 5q15-23.1
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
KCNQ2 developmental and epileptic encephalopathy Draft:KCNQ2 developmental and epileptic encephalopathy ? 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
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
SPG15 (disease) Draft:SPG15 SPG11
HNRNPH2-related disorders Draft:HNRNPH2-related disorders

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