Synonym(s): - CDG syndrome type 1m - CDG syndrome type Im - CDG-Im - CDG1M - Carbohydrate deficient glycoprotein syndrome type Im - Congenital disorder of glycosylation type 1m - Congenital disorder of glycosylation type Im - Dolichol kinase deficiency - Hypotonia and ichthyosis due to dolichol phosphate deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare skin 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
DOLK	Q9UPQ8	610746

- Autosomal recessive inheritance
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Hypoplastic / absent nipples
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lipoatrophy

- Clotting / hemostasis disorders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myalgia / muscular pain
- Splenomegaly

- Abnormal hepatic enzymes / transaminases
- Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia
- Congenital hepatic fibrosis