Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
2q33.1
Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614424.1 | United Arab Emirates | Unknown | No | Molar tooth sign on MRI; Hypotonia; Inte... Molar tooth sign on MRI; Hypotonia; Intellectual disability  | NM_001044385.3:c.977_978del | Homozygous | Autosomal, Recessive | Ben-Salem et al. 2014 | Patient from 'MTI_13... | |
| 614424.2 | Saudi Arabia | Female | Yes | Yes | Global developmental delay; Seizure; Ata... Global developmental delay; Seizure; Ataxia; Strabismus; Hypotonia; Abnormal facial shape | NM_001044385.3:c.869+1G>A | Homozygous | Autosomal, Recessive | Alazami et al. 2012 | Younger brother had ... |