Synonym(s): - CDG syndrome type Ij - CDG-Ij - CDG1J - Carbohydrate deficient glycoprotein syndrome type Ij - Congenital disorder of glycosylation type 2j - Congenital disorder of glycosylation type Ij - Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DPAGT1	Q9H3H5	191350

- Clinodactyly of fifth finger
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Seizures / epilepsy / absences / spasms / status epilepticus