Term Name: | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
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Synonyms: | IDDBAS |
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. |
Ontology: | Human Disease [DOID:0081265] ( DOID:0081265 ) |