Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Disease ID: disease_node_20237
Connections displayed (default: 10).
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| Dbxref | MIM:618687 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IDDSSBA |
| Doid Label | intellectual developmental disorder with short stature and behavioral abnormalities |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20237 |
| Doid Id | DOID_0111674 |
| Label | Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)