Search Ontology:
Human Disease

intellectual developmental disorder with short stature and behavioral abnormalities

Term ID
DOID:0111674
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 the IQSEC1 gene on chromosome 3p25.2-p25.1. https://www.ncbi.nlm.nih.gov/pubmed/31607425
References
Ontology
Human Disease   ( DOID:0111674 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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