OBO ID: DOID:0081265
Term Name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Search Ontology:
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:
Ontology: Human Disease   ( DOID:0081265 )
OTHER intellectual developmental disorder with abnormal behavior, microcephaly, and short stature PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PUS7 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 618342
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None