Ataxia, Atresia of the external auditory canal, Bilateral choanal atresia/stenosis, Blepharophimosis, Camptodactyly, Caudal appendage, Cerebellar vermis hypoplasia, Clinodactyly, Conductive hearing impairment, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Dysplastic corpus callosum, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Floppy infant, Gastrostomy tube feeding in infancy, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Irregular dentition, Large fontanelles, Lymphedema, Malar flattening, Microcephaly, Micrognathia, Microtia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Narrow chest, Narrow forehead, Narrow mouth, obsolete Joint laxity, Osteopenia, Pachygyria, Periventricular nodular heterotopia, Ptosis, Pulmonic stenosis, Renal hypoplasia, Sacral dimple, Scoliosis, Self-injurious behavior, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Short stature, Simplified gyral pattern, Skeletal dysplasia, Subcortical band heterotopia, Syndactyly, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Ventriculomegaly, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge

abnormal sternum ossification, abnormal thoracic vertebrae morphology, abnormal vertebrae development, curly tail, dilated kidney collecting duct, dilated renal tubules, impaired branching involved in ureteric bud morphogenesis, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, small kidney, small lung, thick mitral valve cusps, wide sternum