| 619641.1.1 | Palestine | Motor delay; Intellectual disability, severe; Absent speech; Hyperreflexia; Spastic gait; Lower limb spasticity; Abnormal facial shape; Strabismus; Ptosis; Bicuspid aortic valve; Thin corpus callosum; Cerebral atrophy; Cerebellar atrophy; Contractures involving the joints of the feet | Female | Yes | Yes | Patient from 'family 2' in the publication. |
| 619641.1.2 | Palestine | Motor delay; Intellectual disability, severe; Absent speech; Hyperreflexia; Lower limb spasticity; Abnormal facial shape; Strabismus; Ptosis; Bicuspid aortic valve; Thin corpus callosum; Cerebral atrophy; Cerebellar atrophy; Inability to walk; Contractures involving the joints of the feet | Male | Yes | Yes | Brother of 619641.1.1 |
| 619641.1.3 | Palestine | Motor delay; Intellectual disability, severe; Hyperreflexia; Lower limb spasticity; Abnormal facial shape; Strabismus; Thin corpus callosum; Cerebral atrophy; Cerebellar atrophy; Seizure; Spastic gait; Abnormal saccadic eye movements; Poor speech | Female | Yes | Yes | Sister of 619641.1.1 |
| 619641.1.5 | Palestine | | Female | | | Mother of 619641.1.1 |
