Term Name: neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13.
Ontology: Human Disease [DOID:0061252]   ( DOID:0061252 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder