Neurological features and neurodevelopmental outcome of CC2D2A- related Joubert syndrome
| Identification no | Age (years) | MRI findings | VM/HC | Ataxia | Walking | Speech | Education | Seizures | Behaviour | Other neuro |
| UW36-3 | 8 | MTS, malformed hippocampi | VM | Yes | Wheelchair, household ambulator | ND | High school cert, Sp Ed | – | Aggressive | – |
| UW41-3 | 9 | MTS | VM | Yes | Walking with aid | Non-verbal | Preschool, Sp Ed | – | Aut behaviour | Stereotyped mvts |
| UW46-1 | 19 | MTS | VM | Yes | Indep age 3 years | Verbal | Reads in KG, Sp Ed | – | – | Involuntary mvts, tics |
| UW46-2 | 22 | MTS | VM | Yes | Indep age 6 years | Signs | College Sp Ed | – | – | – |
| UW47-3 | 19 | MTS | – | Yes | Indep age 10 years | Signs | Lifeskills program | Complex partial | Anxiety | – |
| UW48-3 | 7* | MTS, perivent WM abnl | VM | ND | ND | ND | ND | – | – | – |
| UW49-3 | 24 | MTS, partial ACC | HC, VP shunt | Yes | Wheelchair, walks a few steps | Verbal | Mainstreamed Sp Ed | yes (provoked, single post-txpt) | Violent outbursts | – |
| UW50-3 | 12 | MTS, FMC | – | Yes | Indep age 9 years | Partially verbal | Preschool Sp Ed | – | – | Involuntary mvts, tics |
| UW50-6 | 8 | MTS, ACC, small EC | VM | Yes | Not walking | Non-verbal | Preschool Sp Ed | – | – | Involuntary mvts, tics |
| UW67-3 | 7 | MTS, PMG, TM het, MB het | VM | ND | Walker | Non-verbal, ACD | ND | – | – | – |
| UW75-3 | 18 | MTS | ND | Yes | Indep age 4 years (unsteady) | Verbal | Mainstreamed Sp ed | – | – | Hemifacial spasms |
| UW76-3 | 3 | MTS | ND | ND | Not walking age 3 year | Signs | NA | – | – | Recurrent facial palsy |
| UW78-3 | 1 | MTS | – | Yes | ND | ND | ND | – | – | – |
| UW79-3 | 26 | MTS | ND | Yes | Indep age 5 years | Verbal and signs | Sp Ed | – | Aggressive | Involuntary mvts |
| UW79-4 | 24 | MTS, CMP, FMC | VM | Yes | Indep age 7 years | Verbal and signs | Sp Ed | Primary generalised | Aut behaviour, violence | Involuntary mvts |
| UW80-3 | 1 | MTS | HC, VP shunt | ND | ND | ND | ND | yes (type ND) | ND | – |
| UW81-3 | 11 | MTS | – | Yes | Indep age 2 years | Verbal | Primary school Sp Ed | – | Temper outbursts | – |
| UW82-3 | 8 | MTS, Nod het, BS het, MB het, CMP | VM | Yes | Walker | Non-verbal, ACD | Preschool Sp Ed | Complex partial | – | – |
| UW102-3 | 4 | MTS, MB het | HC, VP shunt | ND | Not walking | Signs | ND | – | – | Cortical visual impairment |
| UW103-3 | 3 | MTS, PMG, Nod het | VM | Yes | Not walking age 3 years | Non-verbal, picture comm | NA | – | – | – |
↵* Deceased.
ACC, agenesis of the corpus callosum; ACD, augmentative communication device; Aut behaviour, autistic behaviour; BS het, brain stem heterotopia; cert, certificate; CMP, cervicomedullary prominence; EC, encephalocele; FMC, foramen magnum cephalocele; Indep, independent; KG, kindergarten; MB het, midbrain heterotopia; MTS, molar tooth sign; mvts, movements; NA, not applicable; ND, not documented; Nod het, nodular heterotopias; perivent, periventricular; picture comm, picture communication system; PMG, polymicrogyria; Sp Ed, special education; TM het, transmantle heterotopia; txpt, transplant; VM/HC, ventriculomegaly/hydrocephalus; VP, ventriculoperitoneal; W, Walker; WM, white matter.