multiple congenital anomalies-hypotonia-seizures syndrome 1

Rare Disease

MONDO:0013563

Also known as:

PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPIGN-CDGcongenital disorder of glycosylation due to PIGN deficiency

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

Genes

Clinical Trials

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Patient Groups

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Companies Active in multiple congenital anomalies-hypotonia-seizures syndrome 1

1 company

Organizations with orphan designations or approved therapies for this disease

UCB, Inc.

Other

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