Bilateral cryptorchidism, Cerebellar hypoplasia, Chiari type I malformation, Clinodactyly of the 5th finger, Confetti-like hypopigmented macules, Cryptorchidism, Delayed gross motor development, Delayed puberty, Delayed speech and language development, Dental crowding, Deviated nasal septum, Downslanted palpebral fissures, Dysplastic corpus callosum, Ebstein anomaly of the tricuspid valve, Epicanthus, Failure to thrive, Feeding difficulties, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hallux valgus, High, narrow palate, Hyperactive patellar reflex, Hypertelorism, Hypoplasia of the corpus callosum, Increased head circumference, Infantile constant exotropia, Intellectual disability, Intellectual disability, mild, Intention tremor, Kyphoscoliosis, Kyphosis, Left ventricular hypertrophy, Left ventricular noncompaction, Long face, Macrocephaly, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Narrow nasal bridge, Nasal speech, Nasogastric tube feeding, Neonatal hypotonia, Obstructive sleep apnea, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Plagiocephaly, Poor head control, Poor speech, Poor suck, Prominent nasal bridge, Prominent nose, Pseudobulbar paralysis, Relative macrocephaly, Right ventricular hypertrophy, Scoliosis, Seizure, Short philtrum, Shyness, Slender build, Speech apraxia, Strabismus, Supernumerary nipple, Synostosis involving the 1st metacarpal, Talipes valgus, Thick vermilion border, Thickened calvaria, Thin upper lip vermilion, Tremor, Triangular face, Tricuspid regurgitation, Upslanted palpebral fissure, Ventricular septal defect, Wide mouth, Widely spaced teeth, obsolete Joint laxity

decreased survivor rate, delayed cellular replicative senescence, homeostasis/metabolism phenotype, impaired wound healing, increased fibroblast proliferation, no abnormal phenotype detected, preweaning lethality, incomplete penetrance, shortened circadian behavior period, small heart