Joubert syndrome 7
- Synonyms
- RPGRIP1L-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 (77 available)
Clinical features
Help- Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Congenital Abnormality
Abnormality of limbs
- Genu valgum
- 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
- Retinal dystrophy
Retinal dystrophy
- MedGen UID: 208903
- Concept ID: C0854723
- Finding: Finding
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- Nephronophthisis
Nephronophthisis
- MedGen UID: 146912
- Concept ID: C0687120
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
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
- Nephronophthisis
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
- MedGen UID: 334198
- Concept ID: C1842581
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Brainstem dysplasia
Brainstem dysplasia
- MedGen UID: 383739
- Concept ID: C1855677
- 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
- Encephalocele
Encephalocele
- MedGen UID: 1646412
- Concept ID: C4551722
- 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 brainstem
Hypoplasia of the brainstem
- MedGen UID: 334226
- Concept ID: C1842688
- 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
- Oculomotor apraxia
Oculomotor apraxia
- MedGen UID: 483686
- Concept ID: C3489733
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Abnormal corpus callosum morphology
- 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
- Tachypnea
Tachypnea
- MedGen UID: 66669
- Concept ID: C0231835
- Finding: Finding
Abnormality of the respiratory system
- Central apnea
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