hyperphosphatasia with impaired intellectual development syndrome 6

info · Genetic

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.

Signs and symptoms

Narrow forehead
Elevated circulating creatine kinase activity
Anteverted nares
Seizure
Elevated circulating alkaline phosphatase concentration
Hip contracture
Cerebral visual impairment
Osteopenia
Developmental cataract
High palate

Also known as: GPIBD40; HPMRS4; glycosylphosphatidylinositol biosynthesis defect 40; hyperphosphatasia with mental retardation syndrome 4