has material basis in germline mutation in COLGALT1 familial porencephaly brain small vessel disease 3 https://www.malacards.org/card/brain_small_vessel_disease_3 BSVD3 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. MONDO:0100105 UMLS:C5193053 GARD:0026049 MEDGEN:1677948 DOID:0112315 OMIM:618360