Retinitis pigmentosa 74
Summary
Available tests
Clinical tests (35 available)
Genes See tests for all associated and related genes
Also known as: BBS, RP74, BBS2
Summary: Bardet-Biedl syndrome 2
Clinical features
Help- Abnormality of limbs
- Polydactyly
Polydactyly
- MedGen UID: 57774
- Concept ID: C0152427
- Finding: Congenital Abnormality
Abnormality of limbs
- Polydactyly
- 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
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Pigmentary retinopathy
Pigmentary retinopathy
- MedGen UID: 1643295
- Concept ID: C4551715
- Finding: Disease or Syndrome
Abnormality of the eye
- Posterior polar cataract
Posterior polar cataract
- MedGen UID: 376725
- Concept ID: C1850191
- Finding: Anatomical Abnormality
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
- Abnormal renal morphology
Abnormal renal morphology
- MedGen UID: 1633142
- Concept ID: C4551596
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Abnormal renal morphology
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Obesity
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