| 275900.1.1 | United Arab Emirates | Progressive cerebellar ataxia; Global developmental delay; Brisk reflexes; Hypertonia; Dysarthria; Dysphagia; Failure to thrive; Unsteady gait; Frequent falls; Poor fine motor coordination; Intention tremor; Emotional lability; Babinski sign; Dysdiadochokinesis; Proximal muscle weakness in lower limbs; Medial deviation of the foot; Pes cavus; Periventricular leukomalacia; Hypopigmented macule | Male | Yes | Yes | Proband |
| 275900.1.2 | United Arab Emirates | Limb dystonia; Spastic ataxia; Global developmental delay; Brisk reflexes; Intention tremor; Emotional lability | Female | Yes | Yes | Sister of 275900.1.1 |
| 275900.1.3 | United Arab Emirates | Global developmental delay; Brisk reflexes; Dysphagia; Drooling; Gait ataxia; Tip-toe gait; Scissor gait; Motor delay; Delayed speech and language development; Proximal muscle weakness in lower limbs; Brisk reflexes; Kyphosis; Hypopigmented macule | Male | Yes | Yes | Brother of 275900.1.1 |
| 275900.1.4 | United Arab Emirates | Developmental regression; Short stature; Failure to thrive; Drooling; Delayed speech and language development; Frequent falls; Aggressive behavior; Lumbar hyperlordosis; Talipes equinovarus; Abnormal periventricular white matter morphology; ; Brisk reflexes; Dysphagia; Drooling; Gait ataxia; Tip-toe gait; Scissor gait; Motor delay; Delayed speech and language development; Proximal muscle weakness in lower limbs; Brisk reflexes; Kyphosis; Hypopigmented macule | Female | Yes | Yes | First cousin of 275900.1.1. Sha had a younger brother who died in infancy from complex congenital heart disease. |
| 275900.1.5 | United Arab Emirates | Developmental regression | Female | Yes | Yes | First cousin of 275900.1.1. Sha had a younger brother who died in infancy from complex congenital heart disease. |
| 275900.1.6 | United Arab Emirates | | Male | | | Father of 275900.1.1 |
