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

• MIM:617854

Ontology

Human Disease   ( DOID:0080226 )