Babinski sign, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Cerebral visual impairment, Chorea, Cortical dysplasia, Delayed myelination, Delayed speech and language development, Depression, Difficulty walking, Dyskinesia, Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Epileptic spasm, Focal-onset seizure, Generalized amyotrophy, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Hyperactivity, Hyperreflexia, Hypoplasia of the corpus callosum, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Large basal ganglia, Limb tremor, Lower limb spasticity, Macrotia, Microcephaly, Motor delay, Motor stereotypy, Multifocal epileptiform discharges, Nasogastric tube feeding, Neonatal hypotonia, Polymicrogyria, Poor speech, Progressive spastic paraplegia, Retinal dystrophy, Seizure, Short attention span, Short neck, Short stature, Sleep disturbance, Spastic gait, Spasticity, Wide mouth

abnormal head development, abnormal interparietal bone morphology, abnormal medial nasal prominence morphology, abnormal occipital bone morphology, abnormal oropharynx morphology, abnormal outer ear morphology, abnormal sperm physiology, abnormal sternum morphology, abnormal telencephalon development, abnormal telencephalon morphology, absent Rathke's pouch, absent basioccipital bone, absent gastric milk in neonates, absent mandible, absent maxilla, absent nasal cavity, absent olfactory bulb, cervical vertebral transformation, decreased fetal size, decreased survivor rate, forebrain hypoplasia, fused first pharyngeal arch, lumbar vertebral transformation, otocephaly, perinatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, small embryonic telencephalon, small mandible, thoracic vertebral transformation, truncated foregut, vertebral transformation