Oculocutaneous albinism type 4
- Synonyms
- Albinism, oculocutaneous, type IV
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Masahiro Hayashi
- Tamio Suzuki
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (36 available)
Clinical features
Help- Abnormality of the eye
- Blue irides
Blue irides
- MedGen UID: 108297
- Concept ID: C0578626
- Finding: Finding
Abnormality of the eye
- Hypopigmentation of the fundus
Hypopigmentation of the fundus
- MedGen UID: 101805
- Concept ID: C0151891
- Finding: Disease or Syndrome
Abnormality of the eye
- Macular hypoplasia
Macular hypoplasia
- MedGen UID: 340322
- Concept ID: C1849412
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Blue irides
- 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
- Albinism
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