Waardenburg syndrome type 4A
- Synonyms
- Hirschsprung disease with pigmentary anomaly; WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A; Waardenburg Syndrome Type IVA
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the eye
- Blue irides
Blue irides
- MedGen UID: 108297
- Concept ID: C0578626
- Finding: Finding
Abnormality of the eye
- Heterochromia iridis
Heterochromia iridis
- MedGen UID: 98395
- Concept ID: C0423318
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Blue irides
- Abnormality of the integument
- Hypopigmented skin patches
Hypopigmented skin patches
- MedGen UID: 373164
- Concept ID: C1836735
- 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
- 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
- Hypopigmented skin patches
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Aganglionic megacolon
Aganglionic megacolon
- MedGen UID: 5559
- Concept ID: C0019569
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polyneuropathy
Polyneuropathy
- MedGen UID: 57502
- Concept ID: C0152025
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic paraparesis
Spastic paraparesis
- MedGen UID: 52432
- Concept ID: C0037771
- Finding: Sign or Symptom
Abnormality of the nervous system
- Aganglionic megacolon
- 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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