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Start free with EleplanDDOST-CDG
ORPHA:300536Disease
Also called CDG syndrome type Ir · CDG-Ir · CDG1R · Carbohydrate deficient glycoprotein syndrome type Ir · Congenital disorder of glycosylation type 1r · Congenital disorder of glycosylation type Ir
What it is
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
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%
19- Abnormality of speech or vocalization
- Abnormality of the coagulation cascade
- Accelerated skeletal maturation
- CNS hypomyelination
- Constipation
- Elevated circulating hepatic transaminase concentration
- Esotropia
- Failure to thrive
- Gastroesophageal reflux
- Generalized hypotonia
- Hepatic steatosis
- Neurodevelopmental delay
- Oromotor apraxia
- Osteopenia
- Recurrent ear infections
- Seizure
- Short stature
- Tremor
- 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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