Conditions / Genetic
congenital disorder of glycosylation type IIk
info · Genetic
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Hypotonia
- Hepatomegaly
- Diaphyseal dysplasia
- Metaphyseal dysplasia
- Osteoporosis
- Failure to thrive
- Elevated circulating aspartate aminotransferase concentration
- Joint hypermobility
- Malar flattening
Also known as: CDG IIk; CDG syndrome type IIk; CDG2K; CDGIIk; Carbohydrate deficient glycoprotein syndrome type IIk