congenital disorder of glycosylation Iu

A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressi

A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.

Signs and symptoms

• Optic atrophy
• Elevated circulating creatine kinase activity
• Strabismus
• Seizure
• Severe muscular hypotonia
• Short nose
• Generalized hypotonia
• Thin upper lip vermilion
• High palate
• Elevated circulating hepatic transaminase concentration

Also known as: congenital disorder of glycosylation 1u