Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
3q21.3
MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 611126.1 | Saudi Arabia | Female | Hypotonia; Cardiomyopathy; Death in chil... Hypotonia; Cardiomyopathy; Death in childhood  | NM_014049.5:c.1240C>T | Homozygous | Autosomal, Recessive | Al-Hassnan et al. 2020 |