Intellectual disability, X-linked 96

Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96; SYP-Related X-linked Mental Retardation

Summary

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene. [from MONDO]

Available tests

22 tests are in the database for this condition.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

SYP
48 tests
Also known as: MRX96, MRXSYP, XLID96, SYP
Summary: synaptophysin

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the nervous system
- Intellectual disability
  Intellectual disability
  - MedGen UID: 811461
  - Concept ID: C3714756
  - Finding: Mental or Behavioral Dysfunction
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Seizure
  Seizure
  - MedGen UID: 20693
  - Concept ID: C0036572
  - Finding: Sign or Symptom
  Abnormality of the nervous system
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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