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Start free with EleplanCongenital muscular dystrophy with intellectual disability and severe epilepsy
ORPHA:329178Disease
Also called 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
What it 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
19- Abnormal facial shape
- Absent smooth pursuit
- Absent speech
- Cerebellar hypoplasia
- Contractures of the large joints
- Elevated circulating creatine kinase concentration
- Epileptic encephalopathy
- Failure to thrive
- Generalized clonic seizure
- Generalized hypotonia
- Generalized myoclonic seizure
- Global developmental delay
- Micrognathia
- Myopathic facies
- Osteopenia
- Poor head control
- Progressive microcephaly
- Scoliosis
- Type I transferrin isoform profile
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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