Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
6p25.1
COXPD14 is a severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614946.1 | Lebanon | Female | No | No | Focal clonic seizure; skeletal muscle fi... Focal clonic seizure; skeletal muscle fibrosis  | NM_001318872.2:c.589G>A | Heterozygous | Autosomal, Recessive | Hotait et al. 2020 | Hemizygous mutation ... |
| 614946.2 | Saudi Arabia | Female | Yes | Yes | Muscle weakness; Neurodevelopmental dela... Muscle weakness; Neurodevelopmental delay; Seizure; Myoclonus; Cerebral visual impairment; Increased serum lactate | NM_001318872.2:c.431A>G | Homozygous | Autosomal, Recessive | Shamseldin et al. 2012 | Has two affected dec... |
| 614946.3.1 | Saudi Arabia | Female | Yes | Microcephaly; Abnormal cerebral cortex m... Microcephaly; Abnormal cerebral cortex morphology; Abnormal brain morphology | NM_001318872.2:c.431A>G | Homozygous | Autosomal, Recessive | Charng et al. 2016 | Proband from 'family... | |
| 614946.4 | Saudi Arabia | Female | Yes | Intellectual disability; Motor delay; De... Intellectual disability; Motor delay; Delayed speech and language development; Hypertelorism; Hypotonia; Lactic acidosis; Increased CSF lactate | NM_006567.5:c.973G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||
| 614946.5 | Saudi Arabia | Female | Intellectual disability; Motor delay; De... Intellectual disability; Motor delay; Delayed speech and language development; Hypotonia; Microcephaly; Visual impairment; Seizure; Brain atrophy; Spasticity; Stroke-like episode; Global developmental delay; Abnormal basal ganglia morphology | NM_006567.5:c.1138G>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |