multiple congenital anomalies-hypotonia-seizures syndrome 2

Rare Disease

MONDO:0010466

Also known as:

DEE20GPIBD4MCAHS type 2

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.

Genes

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Patient Groups

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Companies Active in multiple congenital anomalies-hypotonia-seizures syndrome 2

0 approved

Organizations with approved therapies for this disease

No approved therapies yet

Research is ongoing — 38 companies have orphan drug designations for this disease

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multiple congenital anomalies-hypotonia-seizures syndrome 2

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Companies Active in multiple congenital anomalies-hypotonia-seizures syndrome 2

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