An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). [From Orphanet]
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
2q35
An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 603358.1 | United Arab Emirates | Female | No | Yes | Intrauterine growth retardation; Failure... Intrauterine growth retardation; Failure to thrive; Intellectual disability  | NM_001079866.1:c.385G>A | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Authors not sure wht... |