FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term multiple congenital anomalies-hypotonia-seizures syndrome 1 ID (Ontology) DOID:0080138 (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 has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
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 Genes
 multiple congenital anomalies-hypotonia-seizures syndrome 1       5
 for disease ribbon | multiple congenital anomalies-hypotonia-seizures syndrome 1       5
 model of | multiple congenital anomalies-hypotonia-seizures syndrome 1       5
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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 1  5 rec.
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Is a autosomal recessive disease
multiple congenital anomalies-hypotonia-seizures syndrome
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MIM:614080