Phenotypes for disease #02284

3 entries on 1 page. Showing entries 1 - 3.
Legend  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000092606 see paper; ... - - Unknown - - - - - Arnaud Molin 00117372
0000092609 age onset 2-7y; before treatment had low normal serum calcium levels (2.00–2.32 mM; normal 2.12–2.62), low serum phosphate levels (0.84–0.87 mM; normal 0.97–1.45), elevated serum alkaline phosphatase levels (2,360–3,000 u/l; normal 100–320), serum 1alpha,25-dihydroxyvitamin D levels (137–142 pM, normal 48–182), low 25-hydroxyvitamin D levels (10–12 nM; normal 25–137) - - Familial, autosomal recessive - - - bone abnormalities lower extremities - Johan den Dunnen 00117376
0000116611 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00143833
Legend