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 )

Relationships
is a type of: Warburg micro syndrome