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congenital disorder of glycosylation Iu

Summary

Synonym

congenital disorder of glycosylation 1u

Definition

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.

Super Class

autosomal recessive disease congenital disorder of glycosylation type I

External Links

Disease Ontology

DOID:0080571

Mondo Disease Ontology

MONDO:0014023

ORDO

329178

GARD

12416

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
8818	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 51 in total

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HPO ID	HPO Term
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000243	Trigonocephaly
HP:0000253	Progressive microcephaly
HP:0000294	Low anterior hairline
HP:0000347	Micrognathia
HP:0000486	Strabismus
HP:0000601	Hypotelorism
HP:0000648	Optic atrophy
HP:0000689	Dental malocclusion