Ectopic ossification in tendon tissue, Failure to thrive, Glaucoma, Hallux valgus, Hamartoma, Hearing impairment, Intellectual disability, Intellectual disability, mild, Limitation of joint mobility, Metaphyseal widening, Progressive cervical vertebral spine fusion, Respiratory insufficiency, Scoliosis, Seizure, Sensorineural hearing impairment, Short 1st metacarpal, Short hallux, Small cervical vertebral bodies, Spinal rigidity, Subcutaneous nodule, Synostosis of joints, Widely spaced teeth, obsolete Hypotrichosis

abnormal cardiac outflow tract development, abnormal cervical vertebrae morphology, abnormal costovertebral joint morphology, abnormal ectoderm development, abnormal embryo development, abnormal embryonic epiblast morphology, abnormal frontal bone squamous part morphology, abnormal gastrulation, abnormal glial cell physiology, abnormal long bone epiphyseal plate morphology, abnormal malleus morphology, abnormal mandible morphology, abnormal mandibular fossa morphology, abnormal mesoderm development, abnormal motor capabilities/coordination/movement, abnormal palatal shelf elevation, abnormal phalanx morphology, abnormal pharyngeal arch artery morphology, abnormal primitive streak formation, abnormal primitive streak morphology, abnormal sixth pharyngeal arch artery morphology, abnormal skeleton development, abnormal suckling behavior, abnormal third pharyngeal arch artery morphology, abnormal vascular endothelial cell differentiation, abnormal visceral endoderm morphology, abnormal zygomatic arch morphology, absent allantois, absent amnion, absent amniotic folds, absent cardiac neural crest cells, absent chorion, absent mandibular symphysis, absent mesoderm, absent retrotympanic process, absent temporal bone zygomatic process, absent temporomandibular joint, absent zygomatic bone, cardiovascular shunt, cardiovascular system phenotype, conotruncal ridge hypoplasia, decreased atrioventricular cushion size, decreased cardiac neural crest cell number, decreased embryo size, decreased width of hypertrophic chondrocyte zone, disorganized embryonic tissue, ectopic bone, embryonic growth arrest, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, impaired cardiac neural crest cell differentiation, increased apoptosis, increased bone ossification, increased chondrocyte proliferation, increased heart right ventricle size, lethality throughout fetal growth and development, incomplete penetrance, mandible hypoplasia, neonatal lethality, complete penetrance, prenatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, retroesophageal right subclavian artery, short femur neck, short malleus manubrium, short mandible, short radius, skeletal muscle degeneration, small mandibular coronoid process, small temporal bone squamous part, thick embryonic epiblast