Bowing of the legs, Bowing of the long bones, Carious teeth, Chondrocalcinosis, Constipation, Craniosynostosis, Decreased calvarial ossification, Disproportionate short-limb short stature, Dolichocephaly, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Emphysema, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fever, Frontal bossing, Generalized hypotonia, Hypercalcemia, Hypercalciuria, Hypotonia, Increased susceptibility to fractures, Intracranial hemorrhage, Irritability, Large fontanelles, Low alkaline phosphatase, Metaphyseal cupping, Micromelia, Myopathy, Narrow chest, Nephrocalcinosis, Osteomalacia, Pathologic fracture, Phosphoethanolaminuria, Platyspondyly, Polyhydramnios, Premature loss of permanent teeth, Premature loss of primary teeth, Proptosis, Rachitic rosary, Recurrent fractures, Recurrent respiratory infections, Respiratory insufficiency, Rickets, Seizure, Short lower limbs, Short ribs, Short stature, Skin dimple, Skin dimple over apex of long bone angulation, Unossified vertebral bodies, Vertebral clefting, Vomiting, Waddling gait, Widely patent fontanelles and sutures

abnormal osteoblast morphology, abnormal osteoblast physiology, abnormal spinal nerve morphology, abnormal thymus cortex morphology, abnormal tooth development, abnormal tooth root development, abnormal tooth root morphology, decreased alkaline phosphatase activity, decreased body size, decreased bone mineralization, decreased circulating alkaline phosphatase level, decreased long bone epiphyseal plate size, decreased trabecular bone thickness, delayed bone mineralization, enlarged dental pulp chamber, increased bone trabecula number, lung hemorrhage, pale spleen, postnatal lethality, complete penetrance, small spleen, thin parietal bone, weakness