Deeply set eye, Drooling, EEG abnormality, Exotropia, Fair hair, Feeding difficulties in infancy, Flat occiput, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypopigmentation of the skin, Hypoplasia of the maxilla, Hypotonia, Intellectual disability, progressive, Intellectual disability, severe, Limb tremor, Macroglossia, Mandibular prognathia, Microcephaly, Motor delay, Myopia, Neurological speech impairment, Nystagmus, Obesity, Paroxysmal bursts of laughter, Progressive gait ataxia, Protruding tongue, Scoliosis, Secondary microcephaly, Seizure, Sleep-wake cycle disturbance, Strabismus, Wide mouth, Widely spaced teeth

abnormal locomotor activation, abnormal long term potentiation, abnormal mammary gland growth during pregnancy, abnormal motor capabilities/coordination/movement, abnormal motor learning, abnormal nest building behavior, abnormal operant conditioning behavior, abnormal ovarian folliculogenesis, abnormal seminal vesicle morphology, abnormal sleep pattern, abnormal spatial learning, abnormal spike wave discharge, audiogenic seizures, behavior/neurological phenotype, decreased bone mineral content, decreased brain weight, decreased exploration in new environment, decreased food intake, decreased litter size, decreased locomotor activity, decreased oocyte number, decreased ovary weight, decreased prepulse inhibition, decreased prostate gland weight, decreased red blood cell distribution width, decreased respiratory quotient, decreased testis weight, decreased uterus weight, decreased vertical activity, impaired contextual conditioning behavior, impaired luteinization, impaired sperm capacitation, increased dopamine level, increased serotonin level, limb grasping, paternal imprinting, postnatal lethality, postnatal lethality, incomplete penetrance, reduced female fertility, reduced long term potentiation, reduced male fertility, small cerebellum