Polyneuropathy - intellectual deficit - acromicria - premature menopause

General Information (adopted from Orphanet):

Synonyms, Signs: Lundberg syndrome
Number of Symptoms 16
OrphanetNr: 2928
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000869) Secondary amenorrhea Very frequent [Orphanet] 42 / 7739
2
 (HPO:0000221) Furrowed tongue Occasional [Orphanet] 24 / 7739
3
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
4
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
5
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
7
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
8
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
9
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
10
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
13
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
14
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
15
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: