MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615501
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:0000817) Poor eye contact 26 / 7739
2
 (HPO:0001347) Hyperreflexia 363 / 7739
3
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
 (HPO:0001276) Hypertonia 317 / 7739
5
 (HPO:0005268) Spontaneous abortion 15 / 7739
6
 (HPO:0011968) Feeding difficulties 240 / 7739
7
 (HPO:0003570) Molybdenum cofactor deficiency 3 / 7739
8
 (HPO:0002421) Poor head control 23 / 7739
9
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
10
 (HPO:0002126) Polymicrogyria 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: