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GTR Home > Conditions/Phenotypes > Congenital muscular dystrophy with intellectual disability and severe epilepsy

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Synonyms
CDG Iu; Congenital disorder of glycosylation type 1u; DPM2-CDG (CDG-Iu)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies 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. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. [from SNOMEDCT_US]

Available tests

35 tests are in the database for this condition.

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Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1U, DPM2
    Summary: dolichyl-phosphate mannosyltransferase subunit 2, regulatory

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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