Joubert syndrome 5
- Synonyms
- CEP290-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
Check Related conditions for additional relevant tests.
Clinical tests (127 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
- Abnormality of the eye
- Congenital blindness
Congenital blindness
- MedGen UID: 2288
- Concept ID: C0005754
- Finding: Congenital Abnormality
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Retinal coloboma
Retinal coloboma
- MedGen UID: 761889
- Concept ID: C3540764
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Congenital blindness
- Abnormality of the genitourinary system
- Impaired renal concentrating ability
Impaired renal concentrating ability
- MedGen UID: 395351
- Concept ID: C1859819
- Finding: Finding
Abnormality of the genitourinary system
- Nephronophthisis
Nephronophthisis
- MedGen UID: 146912
- Concept ID: C0687120
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Reduced renal corticomedullary differentiation
Reduced renal corticomedullary differentiation
- MedGen UID: 813461
- Concept ID: C3807131
- Finding: Finding
Abnormality of the genitourinary system
- Renal cortical cysts
Renal cortical cysts
- MedGen UID: 370605
- Concept ID: C1969144
- Finding: Finding
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Impaired renal concentrating ability
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- 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
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis
- MedGen UID: 340931
- Concept ID: C1855676
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- 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
- Molar tooth sign on MRI
Molar tooth sign on MRI
- MedGen UID: 400670
- Concept ID: C1865060
- Finding: Finding
Abnormality of the nervous system
- Occipital encephalocele
Occipital encephalocele
- MedGen UID: 4935
- Concept ID: C0014067
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Oculomotor apraxia
Oculomotor apraxia
- MedGen UID: 483686
- Concept ID: C3489733
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle
- MedGen UID: 867391
- Concept ID: C4021756
- Finding: Finding
Abnormality of the nervous system
- Agenesis of cerebellar vermis
- Abnormality of the respiratory system
- Central apnea
Central apnea
- MedGen UID: 854403
- Concept ID: C3887548
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Episodic tachypnea
Episodic tachypnea
- MedGen UID: 812548
- Concept ID: C3806218
- Finding: Finding
Abnormality of the respiratory system
- Neonatal breathing dysregulation
Neonatal breathing dysregulation
- MedGen UID: 812546
- Concept ID: C3806216
- Finding: Finding
Abnormality of the respiratory system
- Central apnea
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