| Metadata | |
|---|---|
| ID | DOID:0110716 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110716 Copy |
| Name | Warburg micro syndrome 1 |
| Definition | A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. https://pubmed.ncbi.nlm.nih.gov/20512159/ |
| Xrefs | |
| Synonyms |
Micro Syndrome 1 [EXACT] WARBM1 [EXACT] |
| Parent Relationships |