| Metadata | |
|---|---|
| ID | DOID:0112213 |
| Name | multiple congenital anomalies-hypotonia-seizures syndrome 4 |
| Definition | A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/31148362/, https://pubmed.ncbi.nlm.nih.gov/32588908/ |
| Xrefs | |
| Synonyms |
DEE77 [EXACT] developmental and epileptic encephalopathy 77 [EXACT] early infantile epileptic encephalopathy 77 [EXACT] glycosylphosphatidylinositol biosynthesis defect 19 [EXACT] GPIBD19 [EXACT] MCAHS4 [EXACT] |
| Parent Relationships |
is_a multiple congenital anomalies-hypotonia-seizures syndrome |