Conditions / Genetic
hyperphosphatasia with impaired intellectual development syndrome 3
info · Genetic
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15.
Signs and symptoms
- Tented upper lip vermilion
- Seizure
- Elevated circulating alkaline phosphatase concentration
- Motor delay
- Severe intellectual disability
- Shortening of all distal phalanges of the fingers
- Wide nasal bridge
- Hypotonia
- Strabismus
- Muscle weakness
Also known as: GPIBD8; HPMRS3; glycosylphosphatidylinositol biosynthesis defect 8; hyperphosphatasia with mental retardation syndrome 3