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 4 ID (Ontology) DOID:0112213 (Human Disease)
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.
Also Known As "DEE77" ; "developmental and epileptic encephalopathy 77" ; "early infantile epileptic encephalopathy 77" (for all, see Synonyms field below)
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 Genes
 multiple congenital anomalies-hypotonia-seizures syndrome 4       1
 for disease ribbon | multiple congenital anomalies-hypotonia-seizures syndrome 4       1
 model of | multiple congenital anomalies-hypotonia-seizures syndrome 4       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 4  1 rec.
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Is a autosomal recessive disease
multiple congenital anomalies-hypotonia-seizures syndrome
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Synonyms
  • "DEE77" EXACT OMO:0003012
    "developmental and epileptic encephalopathy 77" EXACT
    "early infantile epileptic encephalopathy 77" EXACT
    "glycosylphosphatidylinositol biosynthesis defect 19" EXACT
    "GPIBD19" EXACT OMO:0003012
    "MCAHS4" EXACT OMO:0003012
Secondary IDs
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MIM:618548