Peripheral motor neuropathy - dysautonomia

General Information (adopted from Orphanet):

Synonyms, Signs: Lisker-Garcia-Ramos syndrome
Number of Symptoms 18
OrphanetNr: 2400
OMIM Id: 252320
ICD-10:
UMLs: C1854961
MeSH: C536988
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Primary orthostatic hypotension
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
2
 (HPO:0009830) Peripheral neuropathy 206 / 7739
3
 (HPO:0011096) Peripheral demyelination 28 / 7739
4
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
5
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
6
 (HPO:0002459) Dysautonomia 34 / 7739
7
 (HPO:0001278) Orthostatic hypotension 24 / 7739
8
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
9
 (HPO:0002571) Achalasia Very frequent [Orphanet] 19 / 7739
10
 (HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
11
 (HPO:0000975) Hyperhidrosis 64 / 7739
12
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
13
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
14
 (HPO:0003323) Progressive muscle weakness 17 / 7739
15
 (OMIM) Nonspecific sural nerve demyelination 1 / 7739
16
 (OMIM) Profuse sweating 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Distal cyanosis related to cold 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: