Difficulty walking, Downslanted palpebral fissures, Drooling, Dystonia, Everted upper lip vermilion, Facial hypotonia, Flexion contracture, Generalized joint hypermobility, Genu recurvatum, Global developmental delay, High palate, Hyperreflexia, Hypoplasia of the corpus callosum, Hypotonia, Intellectual disability, severe, Long nose, Microcephaly, Motor stereotypy, Narrow face, Narrow forehead, Neonatal hypotonia, Nystagmus, Overweight, Pes planus, Pointed chin, Poor speech, Progressive spastic paraplegia, Prominent antihelix, Seizure, Short philtrum, Short stature, Shyness, Spastic dysarthria, Spastic paraplegia, Spastic tetraplegia, Spasticity, Strabismus, Stuttering, Talipes equinovarus, Ventriculomegaly, Waddling gait, Wide mouth, Wide nasal bridge

abnormal exploration in a new environment, abnormal grip strength, abnormal heart rate, abnormal inspiratory capacity, abnormal kidney morphology, abnormal lean body mass, abnormal locomotor activation, abnormal lung compliance, abnormal lung elastance, abnormal lung tissue damping, abnormal mean corpuscular volume, abnormal prepulse inhibition, abnormal respiratory quotient, abnormal retina outer nuclear layer morphology, abnormal seminal vesicle morphology, abnormal sleep behavior, abnormal spine curvature, abnormal startle reflex, abnormal total retina thickness, abnormal vertebral arch morphology, abnormal vitreous body morphology, decreased CD4-negative, CD25-positive NK T cell number, decreased Ly6C-positive immature NK cell number, decreased bone mineral content, decreased cardiac output, decreased cardiac stroke volume, decreased circulating amylase level, decreased circulating bilirubin level, decreased circulating glucose level, decreased corpus callosum size, decreased exploration in new environment, decreased grip strength, decreased hemoglobin content, decreased lung elastance, decreased mean corpuscular hemoglobin, decreased mean corpuscular volume, decreased respiratory quotient, decreased thigmotaxis, decreased total retina thickness, decreased vertical activity, enlarged lateral ventricles, enlarged lymph nodes, immune system phenotype, increased Ly6C-positive immature NK cell number, increased Ly6C-positive mature NK cell number, increased body length, increased bone mineral content, increased cardiac muscle contractility, increased circulating alkaline phosphatase level, increased exploration in new environment, increased fasting circulating glucose level, increased fluid intake, increased heart weight, increased kidney weight, increased lean body mass, increased lung compliance, increased prepulse inhibition, increased startle reflex, limb grasping, preweaning lethality, incomplete penetrance, prolonged RR interval