Hypermelanotic macule, Intellectual disability, mild, Macule, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizure, Skin vesicle, Subungual hyperkeratotic fragments, Thickened skin

abnormal vascular endothelial cell migration, abnormal vascular endothelial cell physiology, ascending aorta hypoplasia, cardiac fibrosis, cardiac hypertrophy, cardiac interstitial fibrosis, cardiovascular system phenotype, decreased angiogenesis, decreased cardiac muscle contractility, decreased cardiac output, decreased circulating alkaline phosphatase level, decreased embryo size, decreased eosinophil cell number, decreased left ventricle systolic pressure, decreased litter size, decreased systemic arterial blood pressure, decreased systemic arterial systolic blood pressure, decreased ventricle muscle contractility, dilated heart atrium, dilated heart left ventricle, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality during organogenesis, complete penetrance, esophageal epithelium hyperplasia, impaired righting response, increased circulating noradrenaline level, increased esophageal papilloma incidence, increased heart weight, increased left ventricle diastolic pressure, increased prepulse inhibition, increased response of heart to induced stress, increased sensitivity to induced morbidity/mortality, increased skin papilloma incidence, increased tongue papilloma incidence, increased tumor incidence, neonatal lethality, incomplete penetrance, penis prolapse, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, stomach epithelial hyperplasia, thick ventricular wall, thin ventricle myocardium compact layer, toenail hyperkeratosis