Abnormal testis morphology, Abnormal vitreous humor morphology, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the anus, Abnormality of the ear, Abnormality of the nail, Abnormality of the skin, Absent septum pellucidum, Agenesis of corpus callosum, Ambiguous genitalia, Amblyopia, Anophthalmia, Aphasia, Aplasia cutis congenita, Aplasia/Hypoplasia of the skin, Arrhythmia, Atrial septal defect, Blindness, Chorioretinal dysplasia, Cleft earlobe, Clitoral hypertrophy, Congenital diaphragmatic hernia, Corneal opacity, Delayed myelination, 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, High forehead, Highly arched eyebrow, Hydrocephalus, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Hypoplasia of the corpus callosum, Hypospadias, Intellectual disability, Long philtrum, Male pseudohermaphroditism, Mandibular aplasia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Mutism, Myopia, Optic disc pallor, Posterior embryotoxon, Posteriorly rotated ears, Psychomotor retardation, Pulmonary arterial hypertension, Respiratory distress, Respiratory insufficiency, Retinal dysplasia, Retinal dystrophy, Retrognathia, Sacral dimple, Sandal gap, Sclerocornea, Seizure, Severe short stature, Short chin, Short nose, Short stature, Specific learning disability, Status epilepticus, Tetralogy of Fallot, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular hypertrophy, Visual impairment, Visual loss, Vitritis, Wide intermamillary distance, Wide nasal bridge, Wide nose