Disease #04369 (SCAX-1 (ataxia, spinocerebellar?, X-linked type 1 (SCAX-1)), OMIM:302500)

Official abbreviation SCAX-1
Name ataxia, spinocerebellar?, X-linked type 1 (SCAX-1)
OMIM ID 302500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATP2B3
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Individuals

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00092272 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - SCAX-1 mild IDD, autism, epilepsy, ataxia, improvement of neurologic symptoms on oral serine supplements; low CSF and plasma serine ATP2B3 - 0 1 Johan den Dunnen
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