Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA: 2928

Overview

rare disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome, sourced from HPO and Orphanet clinical annotations.

Decreased nerve conduction velocityBrachydactylyIntellectual disabilityGait disturbanceReduced tendon reflexesMuscle weaknessMicromeliaEMG abnormalityShort statureTruncal obesityUlnar deviation of fingerCamptodactyly of fingerFurrowed tongueAbnormal pelvic girdle bone morphologyArrhythmia

Classification & Codes

Orphanet Code

ORPHA:2928
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
OrphanetORPHA:2928
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO