- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: IEA. (OMIM:241500)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: IEA. (OMIM:241500)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: IEA. (OMIM:241500)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:241500)
- Bowdler spurs (HP:6000873): Transverse long bone midshaft spurs or osteochondral projections typically occuring in the fibulae and less commonly in the forearms. Evidence: TAS. (OMIM:241500)
- Decreased calvarial ossification (HP:0005474): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: IEA. (OMIM:241500)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:241500)
- Elevated urine pyrophosphate (HP:0003491): An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. Evidence: TAS. (OMIM:241500)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:241500)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:241500)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:241500)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: IEA. (OMIM:241500)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. (OMIM:241500)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: IEA. (OMIM:241500)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. (OMIM:241500)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. (OMIM:241500)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: IEA. (OMIM:241500)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: IEA. (OMIM:241500)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:241500)
- Short ribs (HP:0000773): Reduced rib length. Evidence: IEA. (OMIM:241500)
- Rachitic rosary (HP:0000897): A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: IEA. (OMIM:241500)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: IEA. (OMIM:241500)
- High-pitched cry (HP:0025430): A type of crying in an abnormally high-pitched voice. Evidence: TAS. (OMIM:241500)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. (OMIM:241500)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:241500)
- Skin dimple over apex of long bone angulation (HP:0001024). Evidence: IEA. (OMIM:241500)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:241500)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: IEA. (OMIM:241500)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: IEA. (OMIM:241500)
- Decreased circulating alkaline phosphatase activity (HP:0003282): Concentration or activity of alkaline phosphatase outside the upper or lower limtis of normal in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:3174660)
- Hypercalciuria (HP:0002150). Evidence: IEA. (OMIM:241500)
- Widely patent fontanelles and sutures (HP:0004492): An abnormally increased width of the cranial fontanelles and sutures. Evidence: IEA. (OMIM:241500)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: IEA. (OMIM:241500)
- Elevated plasma pyrophosphate (HP:0011864): An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. Evidence: TAS. (OMIM:241500)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:241500)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. (OMIM:241500)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:3174660)
- Unossified vertebral bodies (HP:0004606): A lack of ossification of the vertebral bodies. Evidence: IEA. (OMIM:241500)
- Phosphoethanolaminuria (HP:0003239): An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine. Evidence: PCS. Frequency: 11/11. (PMID:3174660;OMIM:241500)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:241500)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: IEA. (OMIM:241500)
- Vertebral clefting (HP:0008428): Schisis (cleft or cleavage) of vertebral bodies. Evidence: IEA. (OMIM:241500)
These phenotypes are associated with the disease infantile hypophosphatasia (OMIM:241500).