NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615643
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0012048) Oromandibular dystonia 7 / 7739
2
 (HPO:0007002) Motor axonal neuropathy 17 / 7739
3
 (HPO:0002063) Rigidity 92 / 7739
4
 (HPO:0002067) Bradykinesia 62 / 7739
5
 (HPO:0000722) Obsessive-compulsive behavior 35 / 7739
6
 (HPO:0002376) Developmental regression 74 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0002313) Spastic paraparesis 33 / 7739
9
 (HPO:0001265) Hyporeflexia 208 / 7739
10
 (HPO:0001268) Mental deterioration 88 / 7739
11
 (HPO:0002510) Spastic tetraplegia 54 / 7739
12
 (HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
13
 (HPO:0003693) Distal amyotrophy 118 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0003676) Progressive disorder 148 / 7739
16
 (HPO:0040083) Toe walking 15 / 7739
17
 (HPO:0002180) Neurodegeneration 31 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: