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ID	DOID:0061233
PURL	http://purl.obolibrary.org/obo/DOID_0061233 Copy Copied!
Name	autosomal recessive brain small vessel disease 2B
Definition	A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A2 gene on chromosome 13q34. https://pubmed.ncbi.nlm.nih.gov/36603335/
Xrefs	MIM:621414
Parent Relationships	is_a brain small vessel disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance