Intellectual disability, X-linked 50

Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; MRX50

Summary

X-linked intellectual developmental disorder-50 (XLID50) is a neurodevelopmental disorder characterized by impaired intellectual development accompanied variably by short stature, autistic features, and brain imaging anomalies. Seizures are not present. Carrier females may be affected. Hemizygous mutation in the SYN1 gene also causes X-linked epilepsy with variable learning disabilities and behavior disorders (EPILX1; 300491), which shows overlapping features. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

SYN1
86 tests
Also known as: EPILX, EPILX1, MRX50, SYN1a, SYN1b, SYNI, SYN1
Summary: synapsin I

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the nervous system
- Intellectual disability, mild
  Intellectual disability, mild
  - MedGen UID: 10044
  - Concept ID: C0026106
  - Finding: Mental or Behavioral Dysfunction
  Abnormality of the nervous system
  See: Feature record | Search on this feature

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