Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of pelvic girdle bone morphology, Abnormality of the cervical spine, Abnormality of the elbow, Abnormality of the kidney, Abnormality of the metaphysis, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Amblyopia, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Apnea, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Azoospermia, Bilateral triphalangeal thumbs, Bowing of the legs, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Broad thumb, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carcinoma, Carious teeth, Carpal synostosis, Central apnea, Chiari malformation, Childhood onset short-limb short stature, Choanal atresia, Choriocarcinoma, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congestive heart failure, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal undertubulation, Disproportionate short stature, Disproportionate short-limb short stature, Downslanted palpebral fissures, Dysarthria, Elbow dislocation, Enamel hypoplasia, Encephalocele, Enlarged cerebellum, Excessive wrinkled skin, Exotropia, Facial asymmetry, Femoral bowing, Fibular bowing, Flared metaphysis, Flat face, Frontal bossing, Gastroesophageal reflux, Generalized joint hypermobility, Generalized-onset seizure, Genu varum, Global developmental delay, Gonadal dysgenesis, Gray matter heterotopia, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, High forehead, High myopia, High palate, High, narrow palate, Holoprosencephaly, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypermelanotic macule, Hypertelorism, Hypodontia, Hypopigmentation of hair, Hypopigmented skin patches, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal punctum, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Hypotonia, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint stiffness, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limbal stem cell deficiency, Limitation of joint mobility, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metacarpal synostosis, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Midface retrusion, Migraine, Mixed hearing impairment, Motor delay, Narrow chest, Nasolacrimal duct obstruction, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Neurological speech impairment, Numerous nevi, Obesity, Obstructive sleep apnea, Optic atrophy, Osteoarthritis, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Patent ductus arteriosus, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Proptosis, Ptosis, Pulmonary arterial hypertension, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short greater sciatic notch, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Spinal canal stenosis, Spinal stenosis with reduced interpedicular distance, Split hand, Strabismus, Sudden cardiac death, Tall stature, Tarsal synostosis, Telecanthus, Temporal bossing, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Visual impairment, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia, obsolete Abnormality of the metacarpal bones, obsolete Joint hyperflexibility

abnormal cochlear hair cell morphology, abnormal cochlear outer hair cell morphology, abnormal coronal suture morphology, abnormal costal cartilage morphology, abnormal craniofacial bone morphology, abnormal craniofacial morphology, abnormal cranium morphology, abnormal endochondral bone ossification, abnormal epiphyseal plate morphology, abnormal foramen magnum morphology, abnormal head size, abnormal humerus morphology, abnormal hyaline cartilage morphology, abnormal incus morphology, abnormal intervertebral disk morphology, abnormal lambdoid suture morphology, abnormal long bone diaphysis morphology, abnormal long bone epiphyseal ossification zone morphology, 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 malleus morphology, abnormal maxilla morphology, abnormal maxillary zygomatic process morphology, abnormal middle ear ossicle morphology, abnormal neurocranium morphology, abnormal occipital bone morphology, abnormal organ of Corti morphology, abnormal organ of Corti supporting cell differentiation, abnormal osteoblast physiology, abnormal osteoclast differentiation, abnormal osteoclast physiology, abnormal palatine bone horizontal plate morphology, abnormal patterning of the organ of Corti, abnormal perichondrium morphology, abnormal pillar cell differentiation, abnormal pillar cell morphology, abnormal postnatal growth/weight/body size, abnormal sagittal suture morphology, abnormal skeleton development, abnormal snout morphology, abnormal spine curvature, abnormal sternum ossification, abnormal synchondrosis, abnormal tail morphology, abnormal tail position or orientation, abnormal temporal bone morphology, abnormal thoracic cage shape, abnormal thoracic vertebrae morphology, abnormal vertebrae development, abnormal vertebral epiphyseal plate morphology, abnormal zygomatic bone morphology, absent gastric milk in neonates, absent pillar cells, absent tunnel of Corti, absent vertebral spinous process, axial skeleton hypoplasia, bowed fibula, craniofacial phenotype, deafness, decreased body length, decreased body size, decreased bone volume, decreased chondrocyte number, decreased chondrocyte proliferation, decreased cranium height, decreased long bone epiphyseal plate size, decreased width of hypertrophic chondrocyte zone, delayed bone ossification, delayed endochondral bone ossification, disorganized long bone epiphyseal plate, disproportionate dwarf, domed cranium, elongated vertebral body, enhanced osteoblast differentiation, enlarged interparietal bone, enlarged vertebral body, failure of sternum ossification, foramen magnum stenosis, impaired lung alveolus development, increased Deiters cell number, increased bone ossification, increased chondrocyte proliferation, increased cochlear outer hair cell number, increased diameter of femur, increased diameter of long bones, increased fibroblast proliferation, increased hyoid bone size, increased long bone epiphyseal plate size, increased or absent threshold for auditory brainstem response, increased osteoclast cell number, increased width of hypertrophic chondrocyte zone, kinked tail, large femur head, lethality at weaning, complete penetrance, lethality at weaning, incomplete penetrance, long femur, long humerus, long incisors, long limbs, long tail, maxillary retrognathia, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature cranial synchondrosis closure, premature death, premature endochondral bone ossification, prenatal lethality, complete penetrance, proportional dwarf, reduced female fertility, round head, sensorineural hearing loss, short basicranium, short frontal bone, short lumbar vertebrae, short tail, short vertebral body, skeleton phenotype, small caudal vertebrae, small interparietal bone, small occipital bone, small presphenoid bone, small snout, small thoracic cage, small thoracic cavity, synostosis, thin frontal bone, thin parietal bone, wavy tail, wide sternum