OBO ID: DOID:0080226
Term Name: autosomal dominant mental retardation 56 Search Ontology:
Synonyms:
Definition: A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (2)
References:
Ontology: Human Disease   (DOID:0080226)
OTHER autosomal dominant mental retardation 56 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLTC Mental retardation, autosomal dominant 56 617854
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None