Bilateral ptosis, Broad thumb, Bulbous nose, Cavum septum pellucidum, Cerebellar atrophy, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Coloboma, Constipation, Cryptorchidism, Decreased serum complement C3, Delayed speech and language development, Diastema, Downslanted palpebral fissures, Downturned corners of mouth, Dysarthria, Failure to thrive, Feeding difficulties, Focal emotional seizure with laughing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Infantile muscular hypotonia, Intellectual disability, Large hands, Long eyelashes, Long foot, Low anterior hairline, Low-set ears, Macrotia, Microcephaly, Myopia, Nasogastric tube feeding, Nystagmus, Oral aversion, Partial absence of cerebellar vermis, Patent ductus arteriosus, Patent foramen ovale, Pectus excavatum, Pes planus, Protruding ear, Ptosis, Scoliosis, Seizure, Single transverse palmar crease, Single umbilical artery, Slender finger, Smooth philtrum, Speech apraxia, Strabismus, Synophrys, Thin upper lip vermilion, Umbilical hernia, Unsteady gait, Ventricular septal defect, Volvulus, Wide intermamillary distance, Wide mouth