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Namespace Prefixes

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Statements

Subject Item

_:vb50940907

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n3:ECO_0007645

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n3:IAO_0000115

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A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/32165008/ url:https://www.ncbi.nlm.nih.gov/pubmed/25558065 url:https://www.ncbi.nlm.nih.gov/pubmed/27270415