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PedAM

Pediatric Disease Annotations & Medicines




Disease cerebral hemorrhage
Phenotype C0151860|porencephaly
Sentences 1
PubMedID- 20166936 Recently, mutations in col4a1 on chromosome 13q34, encoding the alpha1 chain of type iv collagen, have been linked to a spectrum of cerebral small-vessel disease in humans, including perinatal intracerebral hemorrhage (ich) with consequent porencephaly, adult-onset ich, microbleeds, lacunar strokes, and leukoaraiosis, which follows an autosomal dominant pattern of inheritance.

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