Medical Definition of Phakomatoses
1.
Neurofibromatosis (von Recklinghausen), tuberous sclerosis (Bourneville), encephalo-trigeminal angiomatosis (Sturge-Weber-Dimitri), retino-cerebellar haemangioblastoma (von Hippel-Lindau), neurocutaneous melanosis, ataxia-telangiectasia all autosomal dominant except ataxia-telangiectasia wide range of penetrance and expressivity high rate of sporadic cases (spont. Mutation)
(12 Dec 1998)
Lexicographical Neighbors of Phakomatoses
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