Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
6p21.31
This condition is an extremely rare form of mitochondiral complex III deficiency that has an onset in infancy. Affected individuals exhibit a wide range of symptoms including intrauterine growth retardation, delayed psychomotor development, metabloic acidosis, hypotonia, hearing loss and facial dysmorphia.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615824.1.1 | Lebanon | Male | Yes | Yes | Intrauterine growth retardation; Metabo... Intrauterine growth retardation; Metabolic acidosis; Seizure; Global developmental delay; Delayed social development; Delayed fine motor development; Bilateral sensorineural hearing impairment; Synophrys; Epicanthus; Upslanted palpebral fissure; Depressed nasal bridge; Postaxial polydactyly; Autistic behavior; Aggressive behavior; Hyperactivity; Unilateral cryptorchidism  | NM_032340.4:c.214-3C>G | Homozygous | Autosomal, Recessive | Tucker et al, 2013 | The patient's father... |