| Term Name: | neurodevelopmental disorder with hypotonia, epilepsy, and absent speech |
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| 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 ) |