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ENWaardenburg Syndrome, Type 4a (WS4A)
Alias:
Waardenburg Syndrome Type 4a
Waardenburg-Shah Syndrome
Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4
Ws4a
Ws4
Waardenburg Syndrome with Hirschsprung Disease Type 4a
Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome Type Iva
Waardenburg Syndrome with Hirschsprung Disease, Type 4a
Hirschsprung Disease with Pigmentary Anomaly
Waardenburg Syndrome, Type Iva
Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a
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Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome type 4a, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 4c. An important gene associated with Waardenburg Syndrome, Type 4a is EDNRB (Endothelin Receptor Type B), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Neural crest differentiation. Affiliated tissues include skin and eye, and related phenotypes are constipation and hearing impairment
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