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ORPHA:86309Disease
Also called CDG syndrome type Ij · CDG-Ij · CDG1J · Carbohydrate deficient glycoprotein syndrome type Ij · Congenital disorder of glycosylation type 1j · Congenital disorder of glycosylation type Ij · Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
What it is
DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, 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%
9Sometimes5–29%
49- Abnormal cerebellum morphology
- Aggressive behavior
- Anasarca
- Anemia
- Arachnodactyly
- Astigmatism
- Autism
- Axial hypotonia
and 41 more in this range
Rare1–4%
11- Absent speech
- Akinesia
- Ataxia
- Decreased fetal movement
- Fetal akinesia sequence
- Head-banging
- Hearing impairment
- Inability to walk
and 3 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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