Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Duplication of phalanx of hallux, Duplication of thumb phalanx, Dysphagia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Femoral retroversion, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Hamartoma, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypermelanotic macule, Hypertelorism, Hypoplastic labia minora, Hypoplastic scapulae, Hypotonia, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lipoatrophy, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Lower limb asymmetry, Low posterior hairline, Low-set ears, Macroglossia, Mental deterioration, Microcephaly, Microcornea, Micrognathia, Micromelia, Micropenis, Microphthalmia, Midface retrusion, Mild global developmental delay, Mutism, Nevus, obsolete Dysphasia, obsolete Macrogyria, Optic disc coloboma, Orofacial cleft, Osteochondrosis, Overfolded helix, Pachygyria, Palpebral edema, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pointed chin, Polymicrogyria, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Rib fusion, Scoliosis, Seizure, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Shoulder girdle muscle atrophy, Skeletal dysplasia, Small for gestational age, Specific learning disability, Spina bifida occulta, Subcortical cerebral atrophy, Supernumerary nipple, Supernumerary ribs, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Transient ischemic attack, Trigonocephaly, Upper limb asymmetry, Ventriculomegaly, Webbed neck, Wide mouth, Wide nasal bridge, Wide nose

embryonic lethality at implantation, complete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, enlarged gallbladder, enlarged seminal vesicle, hearing/vestibular/ear phenotype, increased hemangioma incidence, increased mammary adenocarcinoma incidence, increased or absent threshold for auditory brainstem response, increased susceptibility to age-related hearing loss, muscle phenotype, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, short cochlear hair cell stereocilia, short outer hair cell stereocilia