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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 77

Developmental and epileptic encephalopathy, 77

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19; MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4

Summary

Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Starr et al., 2019). For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

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  • Also known as: DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1, PIGQ
    Summary: phosphatidylinositol glycan anchor biosynthesis class Q

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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