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Brain small vessel disease 3

MONDO:0100105

An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.

Also known as: BSVD3

10 clinical trials for this condition and its sub-types.

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Broader categories

Cardiovascular disorder (1093) Disease (717) Nervous system disorder (243) Hereditary disease (188) Vascular disorder (138) Brain disorder (131) Central nervous system disorder (115) Cerebrovascular disorder (104) Human disease (15) Hereditary neurological disease (6)
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