Chorea, Clinodactyly of the 5th finger, Constipation, Delayed myelination, Developmental regression, Drooling, Dyskinesia, Dystonia, EEG abnormality, Fine hair, Gastroesophageal reflux, Hearing impairment, Hypoplasia of the corpus callosum, Impaired social interactions, Intellectual disability, Intellectual disability, severe, Irritability, Kyphosis, Long philtrum, Microcephaly, Motor delay, Neonatal hypotonia, Nephrolithiasis, Pachygyria, Pes planus, Poor eye contact, Progressive microcephaly, Scoliosis, Seizure, Simplified gyral pattern, Spasticity, Talipes equinovarus, Thick vermilion border, Tongue thrusting, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose

abnormal neuronal precursor proliferation, abnormal olfactory epithelium morphology, abnormal radial glial cell morphology, abnormal retina neuronal layer morphology, abnormal telencephalon development, abnormal telencephalon morphology, abnormal visual cortex morphology, decreased cerebral cortex pyramidal cell number, decreased forebrain volume, decreased hippocampus volume, decreased striatum size, decreased visual acuity, neonatal lethality, complete penetrance, no abnormal phenotype detected, no spontaneous movement, perinatal lethality, complete penetrance, small embryonic telencephalon, small olfactory bulb, small thalamus, thin cerebral cortex