Orphanet: Polyneuropathy intellectual disability acromicria premature menopause syndrome

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Disease definition

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.

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Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA:2928

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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