Abnormality of the upper limb, Abnormality of vision, Arachnoid hemangiomatosis, Arrhythmia, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autistic behavior, Behavioral abnormality, Blindness, Buphthalmos, Capillary hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chiari malformation, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Conjunctival telangiectasia, Corneal dystrophy, Dysphagia, Edema, Facial hemangioma, Gingival overgrowth, Glaucoma, Hearing abnormality, Hemianopia, Hemiparesis, Hemiplegia, Heterochromia iridis, Hydrocephalus, Hypermelanotic macule, Hyperostosis, Hyperreflexia, Inferior lens subluxation, Inflammatory abnormality of the eye, Intellectual disability, Intracranial hemorrhage, Iris coloboma, Iris melanoma, Irregular hyperpigmentation, Lower limb asymmetry, Macrocephaly, Metamorphopsia, Mydriasis, Neurological speech impairment, Nevus flammeus, Ocular hypertension, Ocular pain, Optic atrophy, Papule, Photopsia, Pulmonary embolism, Retinal detachment, Scoliosis, Seizure, Skin ulcer, Strabismus, Stroke, Venous insufficiency, Venous thrombosis, Visceral angiomatosis, Visual loss, Vitreous hemorrhage, Zonular cataract

abnormal heart ventricles weight, abnormal innervation, abnormal myocardial fiber calcium currents, abnormal myocardial fiber morphology, absent long term depression, cardiac fibrosis, cardiac hypertrophy, cardiac interstitial fibrosis, darkened coat color, decreased cardiac muscle contractility, decreased cardiac output, decreased systemic arterial systolic blood pressure, decreased ventricle muscle contractility, dilated heart, dilated heart atrium, dilated heart ventricle, disheveled coat, enlarged myocardial fiber, hyperpigmentation, increased cardiomyocyte apoptosis, increased ear pigmentation, increased foot pad pigmentation, increased heart right atrium weight, increased heart weight, increased left ventricle diastolic pressure, increased lung weight, increased tail pigmentation, liver vascular congestion, myocardial fiber degeneration, myocardium hypertrophy, neonatal lethality, incomplete penetrance, nervous system phenotype, postnatal lethality, premature death, pulmonary vascular congestion, thick interventricular septum