OBO ID: DOID:0111586
Term Name: Martsolf syndrome Search Ontology:
Synonyms:
  • cataract-intellectual disability-hypogonadism syndrome
Definition: A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (3)
References:
Ontology: Human Disease   (DOID:0111586)
OTHER Martsolf syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAB3GAP2 Martsolf syndrome 1 212720
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None