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Metadata
ID DOID:0111674
Name intellectual developmental disorder with short stature and behavioral abnormalities
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
Xrefs

OMIM:618687

Synonyms

IDDSSBA [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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