autosomal recessive brain small vessel disease 2B

Term ID

DOID:0061233

Synonyms

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/

References

• MIM:621414

Ontology

Human Disease   ( DOID:0061233 )