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Hyperphosphatasia with intellectual disability syndrome 4

MONDO:0014318

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.

Also known as: PGAP3 hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 4, hyperphosphatasia with intellectual disability syndrome type 4, hyperphosphatasia with mental retardation syndrome 4, hyperphosphatasia with mental retardation syndrome type 4, hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3, HPMRS4, glycosylphosphatidylinositol biosynthesis defect 10

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
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