intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Term ID

DOID:0081265

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. (2)

References

• OMIM:618342

Ontology

Human Disease   ( DOID:0081265 )