MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 616277
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:0000639) Nystagmus 555 / 7739
2
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
3
 (HPO:0002490) Increased CSF lactate 28 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
7
 (HPO:0002151) Increased serum lactate 92 / 7739
8
 (HPO:0002104) Apnea 106 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: