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intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081265
- Mondo Disease Ontology
- OMIM
