Conductive hearing impairment, Congenital hip dislocation, Craniosynostosis, Cryptorchidism, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, EEG abnormality, Feeding difficulties in infancy, Frontal bossing, Genu valgum, Genu varum, Global developmental delay, High forehead, High palate, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypospadias, Hypotonia, Intellectual disability, Macrocephaly, Macrotia, Mandibular prognathia, Micrognathia, Multiple renal cysts, Neoplasm, Neoplasm of the nervous system, Obesity, Patent ductus arteriosus, Precocious puberty, Prominent forehead, Renal duplication, Sacrococcygeal teratoma, Scoliosis, Seizure, Strabismus, Tall stature, Ventriculomegaly, Vesicoureteral reflux

ectopic Purkinje cell, ectopic cerebellar granule cells, ectopic hippocampus pyramidal cells, increased neuron apoptosis, long stride length, loss of cortex neurons