| Metadata | |
|---|---|
| ID | DOID:0080449 |
| Name | developmental and epileptic encephalopathy 16 |
| Definition | A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/21087195, https://www.ncbi.nlm.nih.gov/pubmed/23526554 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DEE16 [EXACT] early infantile epileptic encephalopathy 16 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |