OBO ID: DOID:0080242
Term Name: syndromic X-linked mental retardation Hough type Search Ontology:
Synonyms:
Definition: A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. https://pubmed.ncbi.nlm.nih.gov/28098945/
References:
Ontology: Human Disease   (DOID:0080242)
OTHER syndromic X-linked mental retardation Hough type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNKSR2 Intellectual developmental disorder, X-linked, syndromic, Houge type 301008
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None