Term Name: intellectual developmental disorder with short stature and behavioral abnormalities
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.
Ontology: Human Disease [DOID:0111674]   ( DOID:0111674 )

Relationships
is a type of: autosomal recessive disease syndrome