Conditions / Genetic
hyperphosphatasia with impaired intellectual development syndrome 1
info · Genetic
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.
Signs and symptoms
- Elevated circulating alkaline phosphatase concentration
- Hypotonia
- Short distal phalanx of finger
- Intellectual disability
- Absent speech
- Global developmental delay
- Hypertelorism
- Downturned corners of mouth
- Broad nasal tip
- Wide nasal bridge
Also known as: GPIBD2; HPMRS1; glycosylphosphatidylinositol biosynthesis defect 2; hyperphosphatasia with mental retardation syndrome 1