Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
16q12.2
COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis. Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 619113.1 | United Arab Emirates | Female | No | Yes | Oculomotor apraxia; Global developmental... Oculomotor apraxia; Global developmental delay; Hepatomegaly; Generalized hypotonia  | NM_015272.5:c.1582-1G>C | Homozygous | Autosomal, Recessive | Alabdullatif et al. 2017 |