Vitreoretinopathy with phalangeal epiphyseal dysplasia
Summary
Available tests
Clinical tests (6 available)
Clinical features
Help- Abnormality of limbs
- Abnormal epiphysis morphology of the phalanges of the hand
Abnormal epiphysis morphology of the phalanges of the hand
- MedGen UID: 867253
- Concept ID: C4021613
- Finding: Anatomical Abnormality
Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Abnormal epiphysis morphology of the phalanges of the hand
- Abnormality of the eye
- Lattice retinal degeneration
Lattice retinal degeneration
- MedGen UID: 102321
- Concept ID: C0154856
- Finding: Disease or Syndrome
Abnormality of the eye
- Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment
- MedGen UID: 489829
- Concept ID: C0271055
- Finding: Finding
Abnormality of the eye
- Lattice retinal degeneration
- Abnormality of the musculoskeletal system
- Osteoarthritis, hip
Osteoarthritis, hip
- MedGen UID: 14530
- Concept ID: C0029410
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteoarthritis, hip
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.