Hyperphosphatasia with intellectual disability syndrome 2

MONDO:0013882

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.

Also known as: PIGO hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 2, hyperphosphatasia with intellectual disability syndrome type 2, hyperphosphatasia with mental retardation syndrome 2, hyperphosphatasia with mental retardation syndrome type 2, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO, HPMRS2, glycosylphosphatidylinositol biosynthesis defect 6

41 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) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Congenital disorder of glycosylation (6) Congenital limb malformation (3)

Trials to join now! 18 Not yet recruiting 4 Not yet finished but already full! 3 Completed 16

Hyperphosphatasia with intellectual disability syndrome 2

Broader categories

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Massive genetic study aims to unlock secrets of rare metabolic diseases

Study on COVID-19 and metabolic disorders pulled before it began