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hyperphosphatasia with intellectual disability syndrome 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.
Uniprot Description An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients.
Mondo Term and Equivalent IDs
MONDO:0014780:  hyperphosphatasia with intellectual disability syndrome 6
UMLS:C4225201: