Abnormality of epiphysis morphology, Abnormality of the face, Abnormality of the metaphysis, Abnormality of the orbital region, Absent primary metaphyseal spongiosa, Amyoplasia, Anisospondyly, Aplasia/Hypoplasia of the lungs, Aplastic clavicle, Areflexia, Arthrogryposis multiplex congenita, Arthropathy, Barrel-shaped chest, Brachydactyly, Brachytelomesophalangy, Broad-based gait, Cachexia, Camptodactyly of finger, Carpal bone hypoplasia, Cataract, Caudal appendage, Childhood-onset short-trunk short stature, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarse metaphyseal trabecularization, Coxa vara, Decreased distal sensory nerve action potential, Decreased fetal movement, Delayed skeletal maturation, Depressed nasal bridge, Diaphragmatic weakness, Disproportionate short-trunk short stature, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Dumbbell-shaped metaphyses, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Enlarged joints, Epiphyseal dysplasia, Facial palsy, Fetal akinesia sequence, Flared femoral metaphysis, Flared humeral metaphysis, Flared metaphysis, Flat acetabular roof, Flattened femoral head, Flexion contracture, Foot dorsiflexor weakness, Gait disturbance, Genu valgum, Gowers sign, Groin pain, Halberd-shaped pelvis, Hammertoe, Hand muscle atrophy, High forehead, Hip contracture, Hip dysplasia, Hip osteoarthritis, Hip pain, Hoarse voice, Hydrocephalus, Hyperlordosis, Hypermetropia, Hyperplasia of the femoral trochanters, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hyporeflexia, Hypotonia, Impairment of activities of daily living, Increased vertebral height, Intercostal muscle weakness, Irregular acetabular roof, Irregular, rachitic-like metaphyses, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Limited hip movement, Long coccyx, Long thorax, Low-set, posteriorly rotated ears, Lower limb asymmetry, Metatarsus adductus, Micromelia, Motor delay, Motor polyneuropathy, Muscle fiber splitting, Narrow chest, Nonprogressive muscular atrophy, Obstructive sleep apnea, Oculomotor nerve palsy, Osteoarthritis of the small joints of the hand, Pectus carinatum, Peripheral axonal neuropathy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Platyspondyly, Progressive distal muscle weakness, Progressive distal muscular atrophy, Proximal femoral metaphyseal irregularity, Proximal lower limb amyotrophy, Radial deviation of finger, Relatively short spine, Respiratory insufficiency, Scapular muscle atrophy, Scapular winging, Scapuloperoneal amyotrophy, Scoliosis, Sensorineural hearing impairment, Sensory neuropathy, Severe short stature, Short distal phalanx of finger, Short distal phalanx of toe, Short femoral neck, Short finger, Short middle phalanx of finger, Short middle phalanx of toe, Short neck, Short ribs, Short stature, Short stepped shuffling gait, Short thorax, Shortening of all distal phalanges of the toes, Shortening of all middle phalanges of the toes, Shoulder girdle muscle atrophy, Skeletal dysplasia, Small hand, Spinal cord compression, Spinal muscular atrophy, Spondyloepiphyseal dysplasia, Spondylometaphyseal dysplasia, Stridor, Talipes equinovarus, Torticollis, Urinary incontinence, Urinary urgency, Vocal cord paresis, Waddling gait, obsolete Abducens palsy, obsolete Severe carpal ossification delay

abnormal pain threshold, abnormal phalanx morphology, abnormal response to injury, abnormal response to tactile stimuli, abnormal sensory capabilities/reflexes/nociception, abnormal trabecular meshwork morphology, abnormal vascular endothelial cell physiology, abnormal vasodilation, behavior/neurological phenotype, decreased blood osmolality, decreased bone mineralization, decreased circulating antidiuretic hormone level, decreased fetal size, decreased fluid intake, decreased susceptibility to injury, decreased width of hypertrophic chondrocyte zone, failure of endochondral bone ossification, hearing/vestibular/ear phenotype, homeostasis/metabolism phenotype, increased blood osmolality, increased chemical nociceptive threshold, increased or absent threshold for auditory brainstem response, increased susceptibility to noise-induced hearing loss, increased thermal nociceptive threshold, ocular hypertension, perinatal lethality, complete penetrance, short tail, thickened long bone epiphysis