polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Findings
No curated finding names polyneuropathy-intellectual disability-acromicria-premature menopause syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017379), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Occasional (5% to 29% of cases)
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
- Furrowed tongueHPOHP:0000221
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Also called
- Lundberg syndrome