Oculocutaneous albinism type 5
- Synonyms
- Albinism, oculocutaneous, type V
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (3 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of the eye
- Foveal hypoplasia
Foveal hypoplasia
- MedGen UID: 393047
- Concept ID: C2673946
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Foveal hypoplasia
- Abnormality of the integument
- Albinism
Albinism
- MedGen UID: 182
- Concept ID: C0001916
- Finding: Disease or Syndrome
Abnormality of the integument
- Albinism
- Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Photophobia
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