hyperphosphatasia with impaired intellectual development syndrome 4

info · Genetic

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.

Signs and symptoms

Tented upper lip vermilion
Elevated circulating alkaline phosphatase concentration
Hypotonia
Short nose
Hypertelorism
Broad nasal tip
Wide nasal bridge
Absent speech
Global developmental delay
Delayed gross motor development

Also known as: GPIBD62; HPMRS6; glycosylphosphatidylinositol biosynthesis defect 62; hyperphosphatasia with mental retardation syndrome 6