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DOID:0080140 - multiple congenital anomalies-hypotonia-seizures syndrome 3
Disease Ontology 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.
Synonyms: light fixation seizure syndrome, M syndrome
Echinobase Genes
:
pigt
| MIM:615398 - multiple congenital anomalies-hypotonia-seizures syndrome 3; mcahs3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
multiple congenital anomalies-hypotonia-seizures syndrome (is_a),
syndrome (is_a)