Abnormality of the urinary system, Abnormally ossified vertebrae, Abnormally straight spine, Anisospondyly, Anterior bowing of long bones, Anxiety, Aplasia/Hypoplasia affecting the eye, Apnea, Arrhythmia, Arthrogryposis multiplex congenita, Atrial septal defect, Attention deficit hyperactivity disorder, Blepharophimosis, Blepharospasm, Blue sclerae, Bowing of the long bones, Cachexia, Calvarial skull defect, Cataract, Cleft palate, Congenital hip dislocation, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cryptorchidism, Decreased body weight, Decreased testicular size, Delayed skeletal maturation, Dental malocclusion, Depressed nasal ridge, Disproportionate short-limb short stature, Distichiasis, Dysphonia, EMG abnormality, Ectopia lentis, Elbow dislocation, Elevated aldolase level, Elevated circulating creatine kinase concentration, Everted lower lip vermilion, Feeding difficulties in infancy, Flat face, Flexion contracture of toe, Full cheeks, Gait disturbance, Generalized hirsutism, Genu valgum, High palate, High pitched voice, Hip contracture, Hip dysplasia, Hyperlordosis, Hypertelorism, Hyporeflexia, Increased bone mineral density, Intellectual disability, Irritability, Joint contracture of the hand, Joint stiffness, Kyphoscoliosis, Kyphosis, Laryngomalacia, Long eyelashes in irregular rows, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Malar flattening, Malignant hyperthermia, Mask-like facies, Metaphyseal widening, Metatarsus valgus, Microcephaly, Microcornea, Micrognathia, Micromelia, Muscle weakness, Myalgia, Myopathy, Myopia, Myotonia, Narrow chest, Narrow mouth, Narrow palpebral fissure, Nephrolithiasis, Neurological speech impairment, Odontogenic neoplasm, Osteoporosis, Overfolded helix, Overgrowth, Pectus carinatum, Pectus excavatum, Pes planus, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prenatal movement abnormality, Prominent nasal bridge, Protrusio acetabuli, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pursed lips, Respiratory insufficiency, Scoliosis, Short long bone, Short neck, Short stature, Shoulder flexion contracture, Single umbilical artery, Skeletal dysplasia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spasticity, Spinal rigidity, Sprengel anomaly, Strabismus, Supernumerary tooth, Talipes equinovarus, Testicular torsion, Thoracic hypoplasia, Trismus, Umbilical hernia, Visual impairment, Weak voice, Wide nasal bridge, Wormian bones, Wrist flexion contracture

abnormal chest morphology, abnormal chondrocyte morphology, abnormal conotruncus septation, abnormal craniofacial morphology, abnormal cranium morphology, abnormal endochondral bone ossification, abnormal endplate potential, abnormal ethmoid bone morphology, abnormal femur head morphology, abnormal femur neck morphology, abnormal forelimb morphology, abnormal heart and great artery attachment, abnormal hindlimb morphology, abnormal humerus morphology, abnormal internode morphology, abnormal intervertebral disk development, abnormal locomotor coordination, abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal long bone hypertrophic chondrocyte zone, abnormal long bone metaphysis morphology, abnormal miniature endplate potential, abnormal muscle electrophysiology, abnormal myelin sheath morphology, abnormal myocardium compact layer morphology, abnormal myocardium layer morphology, abnormal neuromuscular synapse morphology, abnormal node of Ranvier morphology, abnormal occipital bone morphology, abnormal osteoclast morphology, abnormal paranode morphology, abnormal pericardium morphology, abnormal radial glial cell endfoot morphology, abnormal semilunar valve morphology, abnormal skeletal muscle fiber type ratio, abnormal sphenoid bone morphology, abnormal spine curvature, abnormal sternum morphology, abnormal telencephalon morphology, abnormal vertebral body morphology, abnormal vertebral column morphology, absent conotruncal ridges, absent frontal bone, absent neurocranium, absent parietal bone, chondrodystrophy, conotruncal ridge hyperplasia, decreased body length, decreased bone mineralization, decreased chondrocyte proliferation, decreased cranium height, decreased embryo size, delayed bone ossification, delayed eyelid opening, dilated liver sinusoidal spaces, disorganized long bone epiphyseal plate, disproportionate dwarf, domed cranium, embryonic lethality during organogenesis, incomplete penetrance, enlarged vertebral body, homeostasis/metabolism phenotype, impaired basement membrane formation, increased Schwann cell number, increased compact bone thickness, increased diameter of humerus, increased diameter of long bones, increased osteoclast cell number, increased variability of skeletal muscle fiber size, increased width of hypertrophic chondrocyte zone, lung hemorrhage, perinatal lethality, incomplete penetrance, premature death, short femur neck, short mandible, skeletal muscle hyperplasia, skeleton phenotype, skin hemorrhage