Flexion contracture, Generalized lipodystrophy, Gingival overgrowth, High, narrow palate, High palate, Hyperreflexia, Increased susceptibility to fractures, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Lipodystrophy, Loss of facial adipose tissue, Mask-like facies, Microcephaly, Micrognathia, Narrow naris, Narrow nasal bridge, Open mouth, Opisthotonus, Polyhydramnios, Premature skin wrinkling, Progeroid facial appearance, Prominent nasal tip, Proptosis, Recurrent pneumonia, Respiratory insufficiency, Scoliosis, Seizure, Severe global developmental delay, Shallow orbits, Short philtrum, Spasticity, Spastic tetraparesis, Tented upper lip vermilion, Underdeveloped nasal alae, Upper airway obstruction

abnormal CNS synaptic transmission, abnormal cochlear VIII nucleus morphology, abnormal epididymis morphology, abnormal exploration in a new environment, abnormal hippocampal mossy fiber morphology, abnormal hippocampus pyramidal cell layer, abnormal locomotor activation, abnormal locomotor behavior, abnormal maternal nurturing, abnormal motor capabilities/coordination/movement, abnormal Purkinje cell dendrite morphology, abnormal Purkinje cell morphology, abnormal seminiferous tubule epithelium morphology, abnormal seminiferous tubule morphology, abnormal Sertoli cell morphology, abnormal spermatid morphology, abnormal substantia nigra pars compacta morphology, abnormal synaptic glutamate release, abnormal synaptic neurotransmitter level, absent cerebellar lobules, absent cerebellum fissure, behavioral despair, decreased anxiety-related response, decreased body size, decreased dopamine level, decreased dopaminergic neuron number, decreased food intake, decreased Purkinje cell number, decreased taurine level, decreased thigmotaxis, delaminated Purkinje cell layer, ectopic hippocampus pyramidal cells, ectopic Purkinje cell, environmentally induced seizures, homeostasis/metabolism phenotype, impaired righting response, increased apoptosis, increased exploration in new environment, increased noradrenaline level, increased Purkinje cell number, increased susceptibility to pharmacologically induced seizures, induced hyperactivity, lethality at weaning, incomplete penetrance, premature death, reduced female fertility, reduced male fertility, retropulsion, seminiferous tubule degeneration, small cerebellum, thin cerebellar granule layer, weaving