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Синдром поліневропатії-інтелектуальної недостатності-акромікрії- передчасної менопаузи

ORPHA:2928· ICD-10 Q87.8· Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Визначення(English summary)

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.

Поширеність
<1 / 1 000 000
Вік початку
Adult