Search Ontology:
Human Disease

autosomal dominant intellectual developmental disorder 56

Term ID
DOID:0080226
Synonyms
  • autosomal dominant intellectual developmental disorder-56
  • autosomal dominant mental retardation 56
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. (2)
References
Ontology
Human Disease   ( DOID:0080226 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models