Aplasia/Hypoplasia of the patella, Aplastic/hypoplastic toenail, Back pain, Biceps aplasia, Cataract, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Concave nail, Cubitus valgus, Disproportionate prominence of the femoral medial condyle, Elongated radius, Exostoses, Glaucoma, Glenoid fossa hypoplasia, Glomerulonephritis, Glomerulopathy, Hearing impairment, Hematuria, Hypertension, Hypoplasia of first ribs, Hypoplastic radial head, Hypoplastic toenails, Iliac horns, Joint dislocation, Joint stiffness, Joint swelling, Keratoconus, Lester's sign, Limited elbow extension, Lumbar hyperlordosis, Microcornea, Microphakia, Microscopic hematuria, Nephropathy, Nephrotic syndrome, Osteoarthritis, Patellar aplasia, Patellar dislocation, Patellar hypoplasia, Pectus excavatum, Pes planus, Proteinuria, Ptosis, Quadriceps aplasia, Renal insufficiency, Ridged nail, Scoliosis, Sensorineural hearing impairment, Short stature, Skeletal dysplasia, Spina bifida, Talipes equinovarus, Thickening of the lateral border of the scapula, Triceps aplasia, Vasculitis, obsolete Joint hyperflexibility

abnormal fontanelle morphology, abnormal foot pad morphology, abnormal glomerular capillary endothelium morphology, abnormal glomerular capillary morphology, abnormal interparietal bone morphology, abnormal intraocular muscle morphology, abnormal iridocorneal angle, abnormal iris stroma morphology, abnormal kidney morphology, abnormal lens epithelium morphology, abnormal limb development, abnormal limb position, abnormal long term depression, abnormal long term potentiation, abnormal long term spatial reference memory, abnormal mating preference, abnormal metacarpal bone morphology, abnormal midbrain-hindbrain boundary development, abnormal pectoral girdle bone morphology, abnormal podocyte foot process morphology, abnormal podocyte morphology, abnormal pretectal region morphology, abnormal renal glomerulus basement membrane morphology, abnormal renal glomerulus morphology, abnormal sensory neuron innervation pattern, abnormal serotonergic neuron morphology, abnormal suckling behavior, abnormal superior colliculus morphology, abnormal tectum morphology, absence of all nails, absent cerebellum, absent ciliary body, absent glomerular endothelium fenestra, absent ilium, absent midbrain-hindbrain boundary, absent podocyte foot process, absent podocyte slit diaphragm, absent supraoccipital bone, absent trabecular meshwork, behavior/neurological phenotype, decreased anxiety-related response, decreased corneal epithelium thickness, decreased eye anterior chamber depth, decreased motor neuron number, decreased neuronal precursor cell number, decreased neurotransmitter release, decreased rhombomere 1 size, decreased serotonin level, decreased skeletal muscle mass, decreased superior colliculus size, decreased vocalization, dilated renal tubules, increased neuron number, increased renal glomerulus basement membrane thickness, irregularly shaped pupil, kidney degeneration, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, ocular hypertension, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, podocyte foot process effacement, postnatal lethality, complete penetrance, renal cast, renal glomerular synechia, skeleton phenotype, small cerebellum, small kidney, small tectum, taste/olfaction phenotype