Brain atrophy, Camptodactyly, Camptodactyly of finger, Cataract, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Dandy-Walker malformation, Delayed speech and language development, Diffuse mesangial sclerosis, Dysarthria, Dystonia, EEG abnormality, Epicanthus, Feeding difficulties, Flat occiput, Focal segmental glomerulosclerosis, Global developmental delay, Hand clenching, Hemiplegia/hemiparesis, Hiatus hernia, High palate, Hyperreflexia, Hypertelorism, Hypoalbuminemia, Hypopigmentation of the skin, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the ear cartilage, Hypoplasia of the iris, Hypotelorism, Hypotonia, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Low-set ears, Macrotia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Motor delay, Narrow nasal ridge, Nephropathy, Nephrotic syndrome, Nystagmus, Oligohydramnios, Opacification of the corneal stroma, Optic atrophy, Pachygyria, Pes cavus, Poor speech, Premature birth, Progressive extrapyramidal movement disorder, Prominent nose, Proteinuria, Ptosis, Renal insufficiency, Secondary microcephaly, Seizure, Short stature, Sleep disturbance, Slender finger, Sloping forehead, Small for gestational age, Small nail, Spastic tetraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, Wide mouth