Flexion contracture, Generalized lipodystrophy, Gingival overgrowth, High palate, High, narrow 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, Spastic tetraparesis, Spasticity, Tented upper lip vermilion, Underdeveloped nasal alae, Upper airway obstruction

abnormal cerebellar molecular layer, abnormal cerebellum development, abnormal cerebellum external granule cell layer morphology, abnormal cerebellum vermis morphology, 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 seminiferous tubule epithelium morphology, abnormal seminiferous tubule 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 Purkinje cell number, decreased anxiety-related response, decreased body size, decreased dopamine level, decreased dopaminergic neuron number, decreased food intake, decreased taurine level, decreased thigmotaxis, delaminated Purkinje cell layer, ectopic Purkinje cell, ectopic hippocampus pyramidal cells, environmentally induced seizures, homeostasis/metabolism phenotype, impaired righting response, increased Purkinje cell number, increased apoptosis, increased exploration in new environment, increased noradrenaline level, 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