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Congenital muscular dystrophy with intellectual disability and severe epilepsy
Disease definition
Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by 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.
ORPHA:329178
Classification level: Disorder- Synonym(s):
- CDG syndrome type Iu
- CDG-Iu
- CDG1U
- CMD with intellectual disability and severe epilepsy
- Carbohydrate deficient glycoprotein syndrome type Iu
- Congenital disorder of glycosylation type 1u
- Congenital disorder of glycosylation type Iu
- DPM2-CDG
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 615042
- UMLS: -
- MeSH: -
- GARD: 12416
- MedDRA: -
Additional information