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SRD5A3-sEDD-CDG

Previously: Congenital disorder of glycosylation, type 1q (CDG1Q)

sEDD Gene: SRD5A3 AR

Onset: Birth

Pathway: Glycosylation

Category Paper: sEDD Paper

Key Clinical Clues

Generalized scaling with PPK; hypertrichosis; eye issues; developmental delay.

Additional Cutaneous Features

Dry skin with variable eczematous dermatitis; PPK; hyperpigmentation over knees and acral sites; sometimes hypertrichosis.

Additional Extracutaneous Features

Dysmorphic facies; colobomata, hypertelorism, nystagmus, optic disc hypoplasia, variable visual loss; delayed intellectual and motor development, brain anomalies; pituitary gland hypoplasia; microcytic anaemia, coagulation defects, antithrombin III deficiency.

References

Kamarus Jaman N, Rehsi P, Henderson RH et al. SRD5A3-CDG: emerging phenotypic features of an ultrarare CDG subtype. Front Genet 2021; 12:737094.

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