Phakomatosis

id: phakomatosis-186-10341207
title: Phakomatosis
text: Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penet
brand slug: wiki
category slug: encyclopedia
description: Medical condition
original url: https://en.wikipedia.org/wiki/Phakomatosis
date created: 2005-11-04T16:55:30Z
date modified: 2024-09-08T00:28:40Z
main entity: {"identifier":"Q748376","url":"https://www.wikidata.org/entity/Q748376"}
image:
fields total: 13
integrity: 15

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