1
|
(HPO:0011073)
|
Abnormality of dental color |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
2
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
3
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
4
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
5
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
6
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
7
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
8
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
9
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
10
|
(HPO:0000696)
|
Delayed eruption of permanent teeth |
|
|
|
|
12 / 7739
|
11
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|
12
|
(HPO:0000805)
|
Enuresis |
|
|
|
|
11 / 7739
|
13
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
14
|
(HPO:0004727)
|
Impaired renal concentrating ability |
|
|
|
|
6 / 7739
|
15
|
(HPO:0006302)
|
Dagger-shaped pulp calcifications |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Amelogenesis imperfecta, hypoplastic |
|
|
|
|
5 / 7739
|
17
|
(OMIM)
|
Yellow-brown teeth |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Large follicles around developing teeth crowns |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Increased serum osteocalcin |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Decreased urinary calcium and phosphate excretion |
|
|
|
|
1 / 7739
|
21
|
(HPO:0011037)
|
Decreased urine output |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|