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ORPHA:356961Disease
Also called CDG-IIm · CDG2M · Congenital disorder of glycosylation type 2m · Congenital disorder of glycosylation type IIm · CDG syndrome type IIm
What it is
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- 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%
7Common30–79%
26- Abnormal cerebral white matter morphology
- Abnormal facial shape
- Abnormal glycosylation
- Abnormality of the eye
- Abnormality of the hand
- Abnormality of the immune system
- Abnormality of the respiratory system
- Abnormality of the skin
- Aplasia/hypoplasia involving bones of the extremities
- Axial hypotonia
- Cerebellar atrophy
- Cerebral visual impairment
- Decreased galactosylation of N-linked protein glycosylation
- Decreased sialylation of O-linked protein glycosylation
- Delayed myelination
- Elevated brain N-acetyl aspartate level by MRS
- Elevated circulating hepatic transaminase concentration
- Failure to thrive in infancy
- Feeding difficulties
- Inability to walk
- Infantile spasms
- Intellectual disability, severe
- Microcephaly
- Nasogastric tube feeding
- Scoliosis
- Short stature
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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