Retinitis pigmentosa 59
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (64 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 116013
- Concept ID: C0235996
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Constriction of peripheral visual field
Constriction of peripheral visual field
- MedGen UID: 68613
- Concept ID: C0235095
- Finding: Finding
Abnormality of the eye
- Cystoid macular edema
Cystoid macular edema
- MedGen UID: 7435
- Concept ID: C0024440
- Finding: Disease or Syndrome
Abnormality of the eye
- Night blindness
Night blindness
- MedGen UID: 10349
- Concept ID: C0028077
- 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
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Constriction of peripheral visual field
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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