intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Disease Ontology Browser

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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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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