Giant axonal neuropathy with curly hair

Giant axonal neuropathy with curly hair is an autosomal recessive condition due to mutations in gigaxonin.[1]

References

Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)
Nail disease	Anonychia Leukonychia Pachyonychia congenita/Onychauxis Koilonychia
Hair disease	hypotrichosis/abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis: Zimmermann–Laband syndrome