RADICULONEUROPATHY, FATAL NEONATAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 266250
ICD-10:
UMLs:
MeSH:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001284) Areflexia 198 / 7739
2
(HPO:0002271) Autonomic dysregulation 11 / 7739
3
(HPO:0002270) Abnormality of the autonomic nervous system 22 / 7739
4
(HPO:0002459) Dysautonomia 34 / 7739
5
(HPO:0001561) Polyhydramnios 191 / 7739
6
(HPO:0002028) Chronic diarrhea 51 / 7739
7
(HPO:0002460) Distal muscle weakness 122 / 7739
8
(HPO:0001319) Neonatal hypotonia 101 / 7739
9
(OMIM) Weak diaphragm 1 / 7739
10
(OMIM) Opisthotonic posturing 4 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(HPO:0003819) Death in childhood 42 / 7739
13
(OMIM) Radiculoneuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gilmartin et al. (1977) reported an inbred Mennonite kindred in which 5 sibships had children who succumbed to a neonatal radiculoneuropathy. One parent of each of the 5 sibships was a member of 1 sibship (i.e., the 5 ...