Intellectual disability, autosomal recessive 47
Summary
Available tests
Clinical tests (7 available)
Clinical features
Help- Abnormality of the cardiovascular system
- Mitral valve prolapse
Mitral valve prolapse
- MedGen UID: 7671
- Concept ID: C0026267
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral valve prolapse
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Focal impaired awareness seizure
Focal impaired awareness seizure
- MedGen UID: 543022
- Concept ID: C0270834
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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
- Poor speech
Poor speech
- MedGen UID: 341172
- Concept ID: C1848207
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.