Conditions / Genetic
congenital disorder of glycosylation type IIv
info · Genetic
A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25.
Signs and symptoms
- Abnormal protein N-linked glycosylation
- Global developmental delay
- Thin upper lip vermilion
- Underdeveloped nasal alae
- Epicanthus
- Hypotonia
- Bulbous nose
- Retrognathia
- Intellectual disability
- Narrow palpebral fissure