Joubert syndrome 22
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 (36 available)
Clinical features
Help- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of limbs
- 2-3 toe syndactyly
2-3 toe syndactyly
- MedGen UID: 1645640
- Concept ID: C4551570
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial foot polydactyly
Postaxial foot polydactyly
- MedGen UID: 384489
- Concept ID: C2112129
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- 2-3 toe syndactyly
- Abnormality of the eye
- Congenital ocular coloboma
Congenital ocular coloboma
- MedGen UID: 1046
- Concept ID: C0009363
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Retinal dysplasia
Retinal dysplasia
- MedGen UID: 48433
- Concept ID: C0035313
- Finding: Congenital Abnormality
Abnormality of the eye
- Undetectable electroretinogram
Undetectable electroretinogram
- MedGen UID: 383742
- Concept ID: C1855685
- Finding: Finding
Abnormality of the eye
- Congenital ocular coloboma
- Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal hypoplasia
- 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
- Agenesis of cerebellar vermis
Agenesis of cerebellar vermis
- MedGen UID: 1768774
- Concept ID: C5437781
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
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
- Temporal cortical atrophy
Temporal cortical atrophy
- MedGen UID: 870489
- Concept ID: C4024936
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Agenesis of cerebellar vermis
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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