Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, Growth delay, High palate, Hyperlordosis, Hypotonia, Infantile muscular hypotonia, Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Long philtrum, Long upper lip, Macrotia, Microdontia, Micrognathia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Supernumerary tooth, Swelling of proximal interphalangeal joints, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae, obsolete Sparse and thin eyebrow

abnormal metanephric mesenchyme morphology, abnormal pulmonary alveolus epithelial cell morphology, abnormal pulmonary alveolus morphology, abnormal sternum ossification, abnormal thoracic cage shape, absent tracheal cartilage rings, absent vibrissae, arched palate, brittle teeth, decreased hair follicle number, decreased renal glomerulus number, delayed endochondral bone ossification, disproportionate dwarf, hunched posture, immune system phenotype, neonatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, short mandible, short maxilla, small lung, small thoracic cage, thick pulmonary interalveolar septum