Tyrosinase-negative oculocutaneous albinism
- Synonyms
- Albinism, oculocutaneous, type IA; Oculocutaneous albinism type 1A
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (26 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of the eye
- Abnormality of refraction
Abnormality of refraction
- MedGen UID: 871349
- Concept ID: C4025843
- Finding: Anatomical Abnormality
Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Blue irides
Blue irides
- MedGen UID: 108297
- Concept ID: C0578626
- Finding: Finding
Abnormality of the eye
- Exotropia
Exotropia
- MedGen UID: 4613
- Concept ID: C0015310
- Finding: Disease or Syndrome
Abnormality of the eye
- Foveal hypoplasia
Foveal hypoplasia
- MedGen UID: 393047
- Concept ID: C2673946
- Finding: Finding
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Ocular albinism
Ocular albinism
- MedGen UID: 38147
- Concept ID: C0078917
- Finding: Congenital Abnormality
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Abnormality of refraction
- Abnormality of the integument
- Absent skin pigmentation
Absent skin pigmentation
- MedGen UID: 393051
- Concept ID: C2673954
- Finding: Finding
Abnormality of the integument
- Albinism
Albinism
- MedGen UID: 182
- Concept ID: C0001916
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypopigmentation of hair
Hypopigmentation of hair
- MedGen UID: 480031
- Concept ID: C3278401
- Finding: Finding
Abnormality of the integument
- White hair
White hair
- MedGen UID: 66797
- Concept ID: C0239804
- Finding: Finding
Abnormality of the integument
- Absent skin pigmentation
- 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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