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ID	DOID:0051071
PURL	http://purl.obolibrary.org/obo/DOID_0051071 Copy Copied!
Name	neurodevelopmental disorder with seizures and impaired intellectual and language development
Definition	An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23. https://pubmed.ncbi.nlm.nih.gov/41643666/
Xrefs	MIM:621533
Parent Relationships	is_a autosomal recessive intellectual developmental disorder