| HYPOPHOSPHATASIA, CHILDHOOD | |
|
241510
OMIM = Online Mendelian Inheritance of Men | |
|
247667 | |
| alkaline phosphatase, tissue-nonspecific isozyme | |
| 3.1.3.1 | |
| rare autosomal recessive mutation in the ALPL gene | |
| Laboratory findings | Phosphatase, alkaline dec (serum) Phosphoethanolamine inc (urine) Pyridoxal-5-phosphate inc (plasma) |
| Symptoms | craniostenosis defect of walking, running, rising or climbing dental caries dolichocephaly myopathy onset, adulthood onset, childhood pain, bones or joints seizures short stature skeletal changes, skeletal abnormalities Teeth: generalized defect or abnormalities Teeth: premature loss of primary and/or secondary teeth |