Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

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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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000762 Decreased nerve conduction velocity Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001315 Reduced tendon reflexes Very frequent (99-80%)
HP:0001324 Muscle weakness Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0100805 obsolete Precocious menopause Very frequent (99-80%)
HP:0001956 Truncal obesity Frequent (79-30%)
HP:0009465 Ulnar deviation of finger Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000221 Furrowed tongue Occasional (29-5%)
HP:0002644 Abnormality of pelvic girdle bone morphology Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID