Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 (MCAHS2)

Alias:

Glycosylphosphatidylinositol Biosynthesis Defect 4

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2

Developmental and Epileptic Encephalopathy 20

Epileptic Encephalopathy, Early Infantile, 20

Mcahs Type 2

Mcahs2

Eiee20

Gpibd4

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2

Early Infantile Epileptic Encephalopathy 20

Ferro-Cerebro-Cutaneous Syndrome

Dee20

Fccs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2, also known as glycosylphosphatidylinositol biosynthesis defect 4, is related to hypotonia and paroxysmal nocturnal hemoglobinuria, and has symptoms including myoclonic seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include heart and pons, and related phenotypes are hepatomegaly and microcephaly

Related ID：

MALACARDS：MLT128

OMIM：300868

MESH：D000015