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Start free with EleplanDPM1-CDG
ORPHA:79322Disease
Also called CDG syndrome type Ie · CDG-Ie · CDG1E · Carbohydrate deficient glycoprotein syndrome type Ie · Congenital disorder of glycosylation type 1e · Congenital disorder of glycosylation type Ie · Dol-P-mannosyltransferase deficiency
What it is
A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement.
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
Very common80–99%
5Common30–79%
9Sometimes5–29%
45- Abnormal visual fixation
- Ataxia
- Atonic seizure
- Camptodactyly
- Cerebellar atrophy
- Cerebral atrophy
- Cerebral visual impairment
- Depressed nasal bridge
and 37 more in this range
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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