Joubert syndrome-17 (JBTS17) is caused by compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
5p13.2
Joubert syndrome-17 (JBTS17) is caused by compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614615.1 | Saudi Arabia | Female | No | Yes | Hypotonia; Global developmental delay; A... Hypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Hemifacial spasm; Oculomotor apraxia  | NM_001384732.1:c.8140C>T | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | |
| 614615.2 | Saudi Arabia | Female | Yes | Yes | Hypotonia; Global developmental delay; A... Hypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Oculomotor apraxia; Facial palsy | NM_001384732.1:c.8150_8151del | Homozygous | Autosomal, Recessive | Alazami et al. 2015; Alazami et al. 2012 | |
| 614615.3 | Saudi Arabia | Female | Yes | Yes | Hypotonia; Global developmental delay; A... Hypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Oculomotor apraxia; Orbital encephalocele; Abnormal electroretinogram | NM_001384732.1:c.8150_8151del | Homozygous | Autosomal, Recessive | Alazami et al. 2015; Alazami et al. 2012 | Had a similarly affe... |