FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term multiple congenital anomalies-hypotonia-seizures syndrome 3 ID (Ontology) DOID:0080140 (Human Disease)
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.
Also Known As "light fixation seizure syndrome" ; "M syndrome"
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 Genes
 multiple congenital anomalies-hypotonia-seizures syndrome 3       1
 for disease ribbon | multiple congenital anomalies-hypotonia-seizures syndrome 3       1
 model of | multiple congenital anomalies-hypotonia-seizures syndrome 3       1
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autosomal genetic disease
 |__autosomal recessive disease________________________________
physical disorder                                              |
 |__multiple congenital anomalies-hypotonia-seizures syndrome__|
lipid metabolism disorder                                      |
 |__multiple congenital anomalies-hypotonia-seizures syndrome__|
                                                               multiple congenital anomalies-hypotonia-seizures syndrome 3  1 rec.
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Is a autosomal recessive disease
multiple congenital anomalies-hypotonia-seizures syndrome
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Synonyms
  • "light fixation seizure syndrome" EXACT
    "M syndrome" EXACT
Secondary IDs
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MIM:615398