intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (DOID:0081265)
Alliance: disease page
Synonyms: IDDBAS
Alt IDs: OMIM:618342
Definition: An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.