| Metadata | |
|---|---|
| ID | DOID:0061252 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061252 Copy |
| Name | neurodevelopmental disorder with hypotonia, epilepsy, and absent speech |
| 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. https://pubmed.ncbi.nlm.nih.gov/41125872/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |