| Term Name: | Warburg micro syndrome 1 |
|---|---|
| Synonyms: | Micro Syndrome 1, WARBM1 |
| 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. |
| Ontology: | Human Disease [DOID:0110716] ( DOID:0110716 ) |