Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

General Information (adopted from Orphanet):

Synonyms, Signs: ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Number of Symptoms 15
OrphanetNr: 101097
OMIM Id: 607706
607831
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003383) Onion bulb formation Occasional [HPO:probinson] 30 / 7739
2
 (HPO:0001604) Vocal cord paresis 8 / 7739
3
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
8
 (HPO:0001761) Pes cavus 225 / 7739
9
 (HPO:0001171) Split hand 72 / 7739
10
 (HPO:0001371) Flexion contracture 220 / 7739
11
 (HPO:0008443) Spinal deformities 5 / 7739
12
 (HPO:0003693) Distal amyotrophy 118 / 7739
13
 (HPO:0002460) Distal muscle weakness 122 / 7739
14
 (HPO:0003623) Neonatal onset 22 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: