COXPD19 is a rare metabolic disorder characterised by respiratory distress, hypotonia and severe neonatal lactic acidosis.
Endocrine, nutritional and metabolic diseases
Metabolic disorders
6p25.1
COXPD19 is a rare metabolic disorder characterised by respiratory distress, hypotonia and severe neonatal lactic acidosis.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615595.1.1 | Lebanon; Syria | Male | Yes | Yes | Failure to thrive in infancy; Stridor; R... Failure to thrive in infancy; Stridor; Respiratory distress; Lactic acidosis; Hypotonia  | NM_020408.6:c.203G>T | Homozygous | Autosomal, Recessive | Lim et al. 2013 | Proband from a Leban... |
| 615595.1.2 | Lebanon; Syria | Female | Yes | Yes | Failure to thrive in infancy; Respirator... Failure to thrive in infancy; Respiratory distress; Stridor; Lactic acidosis; Hepatomegaly; Death in infancy | NM_020408.6:c.203G>T | Homozygous | Autosomal, Recessive | Lim et al. 2013 | Double first cousin ... |