2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 616034
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0100704) Cortical visual impairment 28 / 7739
4
 (HPO:0001298) Encephalopathy 72 / 7739
5
 (HPO:0001332) Dystonia 197 / 7739
6
 (HPO:0001257) Spasticity 251 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0002445) Tetraplegia 26 / 7739
9
 (HPO:0001266) Choreoathetosis 57 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0008315) Decreased plasma free carnitine 2 / 7739
13
 (HPO:0002161) Hyperlysinemia 7 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0002415) Leukodystrophy 30 / 7739
16
 (HPO:0002059) Cerebral atrophy 171 / 7739
17
 (HPO:0002119) Ventriculomegaly 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: