autosomal dominant intellectual developmental disorder 56

Summary

DOID:0080226 - autosomal dominant intellectual developmental disorder 56

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that is 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.

Synonyms: autosomal dominant intellectual developmental disorder-56, autosomal dominant mental retardation 56

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cltc

MIM:

MIM:617854 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56; MRD56

MIM:617854 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56; MRD56

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant intellectual developmental disorder (is_a)