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DOLK-sEDD-CDG

Previously: Congenital disorder of glycosylation, type Im (CDG1M)

sEDD Gene: DOLK AR

Onset: Birth

Pathway: Glycosylation

Category Paper: sEDD Paper

Key Clinical Clues

Scaling onset soon after birth; sparse hair, neurological features sometimes dilated cardiomyopathy.

Additional Cutaneous Features

Often with collodion membrane; Hypotrichosis.

Additional Extracutaneous Features

Failure to thrive, microcephaly, dilated cardiomyopathy, digital constrictions/arthrogryposis, coagulation defects; death during first months.

References

Kranz C, Jungeblut C, Denecke J et al. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 2007; 80:433-40. || Komlosi K, Claris O, Collardeau-Frachon S et al. Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis. Front Genet 2021; 12:719624.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer