Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
5q23.2
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Joubert syndrome-31 (JBTS31) is caused by homozygous or compound heterozygous mutation in the CEP120 gene. [From Orphanet and OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617761.1 | Palestine | Male | Yes | Hypotonia; Global developmental delay; T... Hypotonia; Global developmental delay; Truncal ataxia; Molar tooth sign on MRI  | NM_001375405.1:c.49+5_49+10delins477 | Homozygous | Autosomal, Recessive | Roosing et al. 2016 |