Multiple congenital anomalies-hypotonia-seizures syndrome 1

MONDO:0013563

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

Also known as: PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability, PIGN-CDG, congenital disorder of glycosylation due to PIGN deficiency, inherited GPI anchor-deficiency, multiple congenital anomalies-hypotonia-seizures syndrome 1, multiple congenital anomalies-hypotonia-seizures syndrome type 1, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN, PIGN-related inherited GPI deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Multiple congenital anomalies-hypotonia-seizures syndrome 1 itself.

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↑ Developmental anomaly of metabolic origin (383) ↑ Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (0) ↑ Multiple congenital anomalies-hypotonia-seizures syndrome (0)

Including sub-types (0) Tagged with Multiple congenital anomalies-hypotonia-seizures syndrome 1 (0)

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