Search Ontology:
Human Disease

X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

Term ID
DOID:0080311
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models