| Metadata | |
|---|---|
| ID | DOID:0111578 |
| Name | Gillespie syndrome |
| Definition | A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. https://www.ncbi.nlm.nih.gov/pubmed/27108797, https://www.ncbi.nlm.nih.gov/pubmed/27108798 |
| Xrefs |
SNOMEDCT_US_2023_03_01:253176002 |
| Subsets |
DO_rare_slim |
| Synonyms |
aniridia, cerebellar ataxia and mental deficiency [EXACT] aniridia-cerebellar ataxia-intellectual disability syndrome [EXACT] GLSP [EXACT] |
| Parent Relationships |
is_a syndrome |