| Metadata | |
|---|---|
| ID | DOID:0080140 |
| Name | multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| Definition | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/21493957, https://pubmed.ncbi.nlm.nih.gov/36177944/ |
| Xrefs | |
| Synonyms |
light fixation seizure syndrome [EXACT] M syndrome [EXACT] |
| Parent Relationships |
is_a multiple congenital anomalies-hypotonia-seizures syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |