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Mitochondrial Disorders Lab i+12 (Hospital Universitario 12 de Octubre), ERMN-i+12

General information

Mitochondrial Disorders Lab i+12, ERMN-i+12
Hospital Universitario 12 de Octubre
CAA Building. 6th Floor-D block. Av Cordoba S/N
Madrid
Madrid
Spain - 28041
https://imas12.es/investigacion/enfermedades-raras/enfermedades-raras-mitocondriales-y-neuromusculares/
Organization ID: 507020

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 5

Gene

GeneSubmissionsLast Updated
ATAD3A1Jan 23, 2020
LOC1253714951Jun 9, 2020
MT-TN1Feb 11, 2020
NDUFA132Jun 24, 2020
NDUFS41Jun 24, 2020

Condition

NameSubmissionsLast Updated
Congenital cerebellar hypoplasia1Jan 23, 2020
Decreased activity of mitochondrial complex I2Jun 24, 2020
Developmental regression1Jun 24, 2020
External ophthalmoplegia1Feb 11, 2020
Hypertrophic cardiomyopathy2Jun 24, 2020
Infantile encephalopathy1Jun 24, 2020
Lactic acidosis3Jun 24, 2020
Leigh syndrome2Jun 24, 2020
Mitochondrial complex I deficiency, nuclear type 11Jun 24, 2020
Nystagmus2Jun 24, 2020
Ptosis1Feb 11, 2020
Severe global developmental delay2Jun 24, 2020