Aortic valve stenosis, Arthralgia, Atrial septal defect, Basilar impression, Biconcave vertebral bodies, Bone pain, Bowing of the long bones, Brachydactyly, Broad forehead, Cataract, Cervical instability, Chiari malformation, Cholestasis, Cholestatic liver disease, Cleft palate, Coarse facial features, Coarse hair, Coarse metaphyseal trabecularization, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Delayed puberty, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dry skin, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Headache, Hearing impairment, Hematuria, Hepatomegaly, Hernia, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplasia of the zygomatic bone, Hypoplastic 5th lumbar vertebrae, Hypospadias, Intestinal malrotation, Iris coloboma, Kyphoscoliosis, Kyphosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Macrocephaly, Micrognathia, Mitral stenosis, Multiple renal cysts, Myopia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patellar dislocation, Patent ductus arteriosus, Pathologic fracture, Pectus carinatum, Periodontitis, Peripheral neuropathy, Peripheral pulmonary artery stenosis, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Recurrent respiratory infections, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Skin ulcer, Splenomegaly, Synophrys, Syringomyelia, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thickened skin, Thin vermilion border, Triangular face, Umbilical hernia, Ventricular septal defect, Vertebral compression fracture, Wide nasal bridge, Wide nose, Wormian bones, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal kidney development, abnormal kidney papilla morphology, abnormal kidney pelvis morphology, abnormal marginal zone B cell physiology, abnormal metanephric ureteric bud development, abnormal nephrogenic zone morphology, abnormal olfactory epithelium morphology, abnormal osteoclast differentiation, abnormal osteoclast morphology, abnormal placenta labyrinth morphology, abnormal placenta morphology, abnormal placenta vasculature, abnormal podocyte morphology, abnormal pregnancy, abnormal proximal convoluted tubule morphology, abnormal renal glomerulus morphology, abnormal renal tubule morphology, abnormal sensory neuron morphology, abnormal spleen B cell follicle morphology, abnormal spleen marginal zone morphology, abnormal ureteric bud morphology, abnormal vascular smooth muscle morphology, absent marginal zone B cells, absent mesangial cell, absent metanephric mesenchyme, absent podocytes, arrested B cell differentiation, cellular phenotype, decreased B-1 B cell number, decreased B-1a cell number, decreased B-2 B cell number, decreased IgG1 level, decreased IgG3 level, decreased body size, decreased bone mineralization, decreased bone trabecula number, decreased bone volume, decreased compact bone area, decreased compact bone volume, decreased follicular B cell number, decreased kidney cell proliferation, decreased marginal zone B cell number, decreased mature B cell number, decreased pre-B cell number, decreased spleen germinal center number, decreased splenocyte number, decreased trabecular bone connectivity density, decreased trabecular bone thickness, decreased trabecular bone volume, decreased transitional stage B cell number, decreased transitional stage T2 B cell number, dilated proximal convoluted tubule, dilated renal tubules, diluted coat color, embryonic growth retardation, embryonic lethality, embryonic lethality during organogenesis, complete penetrance, focal hepatic necrosis, hematopoietic system phenotype, homeostasis/metabolism phenotype, immune system phenotype, impaired branching involved in ureteric bud morphogenesis, increased B cell proliferation, increased apoptosis, increased bone marrow cell number, increased bone mineralization, increased bone trabecular spacing, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased embryonic tissue cell apoptosis, increased kidney apoptosis, increased marginal zone B cell number, increased neuron apoptosis, increased neuronal precursor cell number, increased osteoblast cell number, increased osteoclast cell number, increased spleen weight, increased susceptibility to parasitic infection, increased transitional stage T1 B cell number, kidney hemorrhage, kidney microaneurysm, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, neuron degeneration, no abnormal phenotype detected, ovarian follicular cyst, ovary hemorrhage, pericardial edema, perinatal lethality, complete penetrance, pigmentation phenotype, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, renal glomerulus cyst, skeleton phenotype, skin edema, small kidney, supravalvar pulmonary trunk stenosis