| Metadata | |
|---|---|
| ID | DOID:0080139 |
| Name | multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| Definition | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/10441586, https://www.ncbi.nlm.nih.gov/pubmed/22305531 |
| Xrefs | |
| Alternateids |
DOID:0080466 |
| Subsets |
DO_rare_slim |
| Synonyms |
developmental and epileptic encephalopathy 20 [EXACT] early infantile epileptic encephalopathy 20 [EXACT] glycosylphosphatidylinositol biosynthesis defect 4 [EXACT] |
| Parent Relationships |
is_a multiple congenital anomalies-hypotonia-seizures syndrome |