Abnormal testis morphology, Abnormal vitreous humor morphology, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the anus, Abnormality of the ear, Abnormality of the nail, Absent septum pellucidum, Agenesis of corpus callosum, Ambiguous genitalia, Amblyopia, Anal atresia, Anophthalmia, Anteriorly placed anus, Aphasia, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric, linear skin defects, Atrial septal defect, Blindness, Cataract, Chordee, Chorioretinal dysplasia, Cleft earlobe, Clitoral hypertrophy, Colpocephaly, Congenital diaphragmatic hernia, Corneal opacity, Dermal atrophy, Dilated cardiomyopathy, Dysphasia, Dyspnea, Echolalia, Epispadias, Erythema, Failure to thrive, Feeding difficulties, Functional motor deficit, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, Histiocytoid cardiomyopathy, Hydrocephalus, Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Hypoplasia of the uterus, Hypospadias, Intellectual disability, Intellectual disability, progressive, Iris coloboma, Male pseudohermaphroditism, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Mutism, Overriding aorta, Ovotestis, Pigmentary retinopathy, Posterior embryotoxon, Respiratory distress, Respiratory insufficiency, Retinal dysplasia, Retinal dystrophy, Retrognathia, Sacral dimple, Sclerocornea, Seizure, Severe short stature, Short stature, Specific learning disability, Status epilepticus, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Visual loss, Vitritis, Wide nasal bridge, Wide nose

dilated heart atrium, dilated heart left ventricle, embryonic growth retardation, embryonic lethality during organogenesis, incomplete penetrance, no abnormal phenotype detected, premature death, prenatal lethality, complete penetrance, thick ventricular wall