Joubert syndrome 40
Summary
Available tests
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
- MedGen UID: 870336
- Concept ID: C4024780
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Almond-shaped palpebral fissure
- Abnormality of limbs
- Postaxial polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial polydactyly
- Abnormality of the eye
- Optic nerve hypoplasia
Optic nerve hypoplasia
- MedGen UID: 137901
- Concept ID: C0338502
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic nerve hypoplasia
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- 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
- Molar tooth sign on MRI
Molar tooth sign on MRI
- MedGen UID: 400670
- Concept ID: C1865060
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Oculomotor apraxia
Oculomotor apraxia
- MedGen UID: 483686
- Concept ID: C3489733
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
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