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PCWH syndrome

Synonyms
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder. [from OMIM]

Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: DOM, PCWH, SOX-10, WS2E, WS4, WS4C, SOX10
    Summary: SRY-box transcription factor 10

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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