Vitreoretinopathy with phalangeal epiphyseal dysplasia
Summary
Available tests
Clinical tests (6 available)
Genes See tests for all associated and related genes
Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
Summary: collagen type II alpha 1 chain
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
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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