NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 162370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006903) Congenital peripheral neuropathy 1 / 7739
2
(HPO:0001257) Spasticity 251 / 7739
3
(HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
4
(HPO:0002136) Broad-based gait 30 / 7739
5
(HPO:0003487) Babinski sign 179 / 7739
6
(HPO:0002522) Areflexia of lower limbs 16 / 7739
7
(HPO:0001371) Flexion contracture 220 / 7739
8
(HPO:0003307) Hyperlordosis 122 / 7739
9
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
10
(HPO:0001848) Calcaneovalgus deformity 12 / 7739
11
(HPO:0003693) Distal amyotrophy 118 / 7739
12
(HPO:0002460) Distal muscle weakness 122 / 7739
13
(OMIM) Dislocation of the hip 2 / 7739
14
(OMIM) Abnormal axons with sprouting and swelling 1 / 7739
15
(OMIM) Limited hip flexion 1 / 7739
16
(OMIM) Delayed walking 13 / 7739
17
(OMIM) Proximal muscle weakness, less severe 1 / 7739
18
(OMIM) Muscle biopsy showed myopathic changes 5 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
(OMIM) Equinus 1 / 7739
21
(OMIM) Limited joint flexion 2 / 7739
22
(OMIM) Denervation 1 / 7739
23
(OMIM) No sensory defects 1 / 7739
24
(OMIM) Equinovalgus 2 / 7739
25
(HPO:0003680) Nonprogressive disorder 23 / 7739
26
(HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yuill and Lynch (1974) reported a family in which 3 males of successive generations and the sister of the youngest male had a neuromuscular disorder characterized by severe foot deformities and weakness and wasting of the distal lower ...