Joubert syndrome 20
- Synonyms
- TMEM231-Related Joubert Syndrome
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Melissa Parisi
- Ian Glass
- view full author information
Available tests
Clinical tests (44 available)
Clinical features
Help- Abnormality of limbs
- 4-5 toe syndactyly
4-5 toe syndactyly
- MedGen UID: 324891
- Concept ID: C1837836
- Finding: Finding
Abnormality of limbs
- Postaxial polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Disease or Syndrome
Abnormality of limbs
- 4-5 toe syndactyly
- Abnormality of the eye
- Retinopathy
Retinopathy
- MedGen UID: 11209
- Concept ID: C0035309
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinopathy
- Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal cyst
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
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
- Oculomotor apraxia
Oculomotor apraxia
- MedGen UID: 483686
- Concept ID: C3489733
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Self-mutilation
Self-mutilation
- MedGen UID: 19925
- Concept ID: C0036601
- Finding: Injury or Poisoning
Abnormality of the nervous system
- Absent speech
- Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory insufficiency
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