Transient neonatal diabetes syndrome

Also known as: TNDM

Neonatal diabetes from overexpression at 6q24.

Medical specialty: Genetics
Subspecialty: Genetics / Imprinting disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal
Gene(s) involved: HYMAI, PLAGL1

Etiology & mechanism

Paternal UPD6 or duplication of 6q24.

Gene(s) involved (2)

HYMAIPLAGL1

Symptoms & signs (5)

dehydrationintrauterine growth restrictionmacroglossianeonatal hyperglycemiaumbilical hernia

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