OBO ID: DOID:0080311
Term Name: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance Search Ontology:
Synonyms:
Definition: A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. https://www.ncbi.nlm.nih.gov/pubmed/16158428
References:
Ontology: Human Disease   ( DOID:0080311 )
OTHER X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OPHN1 Intellectual developmental disorder, X-linked syndromic, Billuart type 300486
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None