Waardenburg syndrome type 2A
- Synonyms
- WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM; Waardenburg Syndrome Type IIA
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (63 available)
Clinical features
Help- Abnormality of head or neck
- Underdeveloped nasal alae
Underdeveloped nasal alae
- MedGen UID: 322332
- Concept ID: C1834055
- Finding: Congenital Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Underdeveloped nasal alae
- Abnormality of the eye
- Heterochromia iridis
Heterochromia iridis
- MedGen UID: 98395
- Concept ID: C0423318
- Finding: Finding
Abnormality of the eye
- Hypoplastic iris stroma
Hypoplastic iris stroma
- MedGen UID: 349788
- Concept ID: C1860344
- Finding: Finding
Abnormality of the eye
- Heterochromia iridis
- Abnormality of the integument
- Albinism
Albinism
- MedGen UID: 182
- Concept ID: C0001916
- Finding: Disease or Syndrome
Abnormality of the integument
- Numerous pigmented freckles
Numerous pigmented freckles
- MedGen UID: 369801
- Concept ID: C1968565
- Finding: Finding
Abnormality of the integument
- Partial albinism
Partial albinism
- MedGen UID: 1053316
- Concept ID: CN376786
- Finding: Finding
Abnormality of the integument
- Premature graying of hair
Premature graying of hair
- MedGen UID: 75524
- Concept ID: C0263498
- Finding: Finding
Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- White eyebrow
White eyebrow
- MedGen UID: 373165
- Concept ID: C1836737
- Finding: Finding
Abnormality of the integument
- White eyelashes
White eyelashes
- MedGen UID: 332275
- Concept ID: C1836736
- Finding: Finding
Abnormality of the integument
- White forelock
White forelock
- MedGen UID: 91023
- Concept ID: C0344312
- Finding: Finding
Abnormality of the integument
- Albinism
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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