Conditions / Genetic
hyperphosphatasia with impaired intellectual development syndrome 2
info · Genetic
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.
Signs and symptoms
- Tented upper lip vermilion
- Elevated circulating alkaline phosphatase concentration
- Short nose
- Hypotonia
- Hypoplastic fingernail
- Broad hallux
- Hypertelorism
- Long palpebral fissure
- Broad nasal tip
- Intellectual disability
Also known as: GPIBD6; HPMRS2; glycosylphosphatidylinositol biosynthesis defect 6; hyperphosphatasia with mental retardation syndrome 2