Arachnoid cyst, Attenuation of retinal blood vessels, Bilateral microphthalmos, Bilateral sensorineural hearing impairment, Camptodactyly of finger, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Cerebral hypoplasia, Cortical dysplasia, Craniosynostosis, Cryptorchidism, Decreased body weight, Delayed speech and language development, Duodenal atresia, Dysarthria, Dysplastic corpus callosum, EEG abnormality, Eczematoid dermatitis, Flexion contracture, Hyperkinetic movements, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypoplasia of the pons, Hypospadias, Hypotelorism, Infantile axial hypotonia, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Knee flexion contracture, Lissencephaly, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microphallus, Microphthalmia, Microretrognathia, Mild short stature, Motor stereotypy, Multiple joint contractures, Narrow mouth, Olivopontocerebellar hypoplasia, Optic disc pallor, Optic nerve hypoplasia, Pachygyria, Pelvic kidney, Periventricular heterotopia, Polymicrogyria, Poor speech, Prominent metopic ridge, Prominent nasal bridge, Proptosis, Retrognathia, Sacrococcygeal pilonidal abnormality, Seizure, Self-injurious behavior, Severe failure to thrive, Severe global developmental delay, Severe short stature, Short stature, Simplified gyral pattern, Sleep disturbance, Sloping forehead, Smooth philtrum, Spasticity, Thin ear helix, Thin ribs, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge

prenatal lethality prior to heart atrial septation, preweaning lethality, complete penetrance