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intellectual developmental disorder with short stature and behavioral abnormalities
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111674
- Mondo Disease Ontology
- OMIM
