autosomal recessive intellectual developmental disorder 43

Term ID

DOID:0081207

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. https://pubmed.ncbi.nlm.nih.gov/34599609/

References

• OMIM:615817

Ontology

Human Disease   ( DOID:0081207 )