Warburg micro syndrome 1

Term ID

DOID:0110716

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. https://pubmed.ncbi.nlm.nih.gov/20512159/

References

• ICD10CM:Q87.0
• MIM:600118

Ontology

Human Disease   ( DOID:0110716 )