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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

40 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Inborn errors of metabolism (42) Human disease (14) Developmental defect during embryogenesis (7) Congenital disorder of glycosylation (6) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1)
Trials to join now! 18 Not yet recruiting 4 Not yet finished but already full! 3 Completed 15
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