Term Name: neurodevelopmental disorder with seizures and impaired intellectual and language development
Synonyms:
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.
Ontology: Human Disease [DOID:0051071]   ( DOID:0051071 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder