OBO ID: DOID:0111674
Term Name: intellectual developmental disorder with short stature and behavioral abnormalities Search Ontology:
Synonyms:
  • IDDSSBA
Definition: A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1. https://www.ncbi.nlm.nih.gov/pubmed/31607425
References:
Ontology: Human Disease   (DOID:0111674)
OTHER intellectual developmental disorder with short stature and behavioral abnormalities PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IQSEC1 Intellectual developmental disorder with short stature and behavioral abnormalities 618687
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None