ZFIN Human Disease: intellectual developmental disorder with short stature and behavioral abnormalities

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 the IQSEC1 gene on chromosome 3p25.2-p25.1. https://www.ncbi.nlm.nih.gov/pubmed/31607425
References:	OMIM:618687
Ontology:	Human Disease ( DOID:0111674 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER intellectual developmental disorder with short stature and behavioral abnormalities PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IQSEC1	iqsec1b iqsec1a	Intellectual developmental disorder with short stature and behavioral abnormalities	618687

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None