Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY
MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED
Congenital cataract - progressive muscular hypotonia - deafness - developmental delay
Number of Symptoms 6
OrphanetNr: 330054
OMIM Id: 613076
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial myopathy
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract 19409522 IBIS 454 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 19409522 IBIS 524 / 7739
3
 (HPO:0001263) Global developmental delay 19409522 IBIS 853 / 7739
4
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 19409522 IBIS 34 / 7739
5
 (HPO:0003198) Myopathy 19409522 IBIS 151 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Di Fonzo et al. (2009) reported a consanguineous Moroccan family including 3 children with congenital cataract, muscular hypotonia, sensorineural hearing loss, and developmental delay. The first child presented in the first month of life with congenital cataract and ...
Molecular genetics OMIM In 3 sibs from a consanguineous Moroccan family with a combined mitochondrial complex deficiency, Di Fonzo et al. (2009) detected homozygosity for a missense mutation in the GFER gene (600924.0001). The consequences of the mutation at the level ...