Wolcott–Rallison syndrome

Also known as: Neonatal diabetes with epiphyseal dysplasia

Neonatal diabetes, skeletal dysplasia and liver failure.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Diabetes
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: EIF2AK3

Etiology & mechanism

EIF2AK3 loss causes ER stress.

Gene(s) involved (1)

EIF2AK3

Symptoms & signs (5)

epiphyseal dysplasiagrowth retardationneonatal diabetesrecurrent liver failurerenal impairment

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