Depression, Dyskinesia, Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Epileptic spasm, Focal-onset seizure, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Growth delay, Hyperactivity, Hypoplasia of the corpus callosum, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Large basal ganglia, Microcephaly, Motor delay, Motor stereotypy, Multifocal epileptiform discharges, Nasogastric tube feeding, Polymicrogyria, Poor speech, Seizure, Short attention span, Sleep disturbance, Spasticity

abnormal lacrimal gland development, abnormal leukocyte adhesion, abnormal leukocyte migration, abnormal septum transversum morphology, abnormal surfactant secretion, abnormal telencephalon morphology, abnormal tendon cell morphology, abnormal tendon collagen fibril morphology, abnormal type II pneumocyte morphology, abnormal vascular development, absent facial bone, absent mandible, absent neurocranium, absent olfactory bulb, aphakia, atrioventricular septal defect, decreased alveolar lamellar body number, decreased angiogenesis, decreased endothelial cell proliferation, delayed bone ossification, hematopoietic system phenotype, herniated liver, hypoxia, impaired leukocyte tethering or rolling, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, perinatal lethality, complete penetrance, thick pulmonary interalveolar septum, thin diaphragm muscle, vision/eye phenotype