Hyperphosphatasia with intellectual disability syndrome 6- MedGen UID:
- 906509
- •Concept ID:
- C4225201
- •
- Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Intellectual disability, X-linked, syndromic 33- MedGen UID:
- 895979
- •Concept ID:
- C4225418
- •
- Disease or Syndrome
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).