Term Name: autosomal recessive intellectual developmental disorder 43
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.
Ontology: Human Disease [DOID:0081207]   ( DOID:0081207 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder