|
Disease subtype
|
No
|
Gender
|
Age of onset/diagnosis
|
Height (cm)
|
Weight (kg)
|
Early deciduous tooth loss
|
Bone deformity
|
Epilepsies
|
Nephrocalcinosis
|
|---|
|
Perinatal lethal
|
1
|
M
|
2 h/2 h
|
47.0 (3th)
|
3.56 (50th–75th)
|
−
|
+
|
+
|
−
|
| |
2
|
M
|
12 h/12 h
|
45.0 (< 3th)
|
2.80 (10th–25th)
|
−
|
+
|
−
|
−
|
|
Infantile
|
3
|
M
|
0.5 m/2.5 m
|
60.0 (25th–50th)
|
5 (10th)
|
−
|
+
|
−
|
+
|
| |
4
|
F
|
1 m/5 m
|
63.0 (10th–25th)
|
4.3 (< 3th)
|
−
|
+
|
−
|
+
|
| |
5
|
M
|
2 m/4 m
|
57.0 (< 3th)
|
5.0 (< 3th)
|
−
|
+
|
−
|
+
|
| |
6
|
M
|
1 m/3 m
|
53.0 (< 3th)
|
3.6 (< 3th)
|
−
|
+
|
−
|
+
|
| |
7
|
M
|
1 m/3 m
|
56.0 (< 3th)
|
4.1 (< 3th)
|
−
|
+
|
−
|
+
|
| |
8
|
F
|
1 m/3 m
|
54.0 (< 3th)
|
3.7 (< 3th)
|
−
|
+
|
−
|
+
|
| |
9
|
M
|
1 d/2 m
|
< 10th
|
NA
|
−
|
+
|
+
|
−
|
| |
10
|
M
|
1 m/5 m
|
56.0 (< 3th)
|
2.59 (< 3th)
|
−
|
+
|
−
|
−
|
| |
11
|
F
|
NA/4 m
|
54.0 (< 10th)
|
4.23 (< 10th)
|
−
|
+
|
−
|
+
|
| |
12
|
M
|
2 m/4 m
|
58.0 (< 3th)
|
5.7 (< 3th)
|
−
|
+
|
−
|
+
|
|
Childhood
|
13
|
M
|
1 y/6 y+5 m
|
NA
|
22.0 (25th–50th)
|
−
|
+
|
−
|
−
|
| |
14
|
F
|
1 y/2 y + 5 m
|
50th
|
NA
|
+
|
+
|
−
|
−
|
| |
15
|
M
|
1 y/8 y
|
25th–50th
|
NA
|
+
|
+
|
−
|
−
|
| |
16
|
F
|
8 m/8 y
|
118 (3th)
|
21 (10th)
|
+
|
+
|
−
|
−
|
| |
17
|
M
|
1 y/15 y
|
160.5 (3th–10th)
|
NA
|
+
|
+
|
−
|
−
|
| |
18
|
F
|
NA/5 y
|
50th
|
50th
|
+
|
+
|
−
|
−
|
| |
19
|
M
|
NA/5.5 y
|
NA
|
NA
|
+
|
+
|
−
|
−
|
| |
20
|
M
|
NA/18 m
|
NA
|
NA
|
+
|
+
|
−
|
−
|
| |
21
|
F
|
2 y/19 y
|
137.0 (< 3th)
|
35.0 (< 3th)
|
+
|
+
|
−
|
−
|
| |
22
|
M
|
2 y/8 y
|
NA
|
NA
|
+
|
+
|
−
|
−
|
|
Odonto
|
23
|
M
|
12 m/14 m
|
NA
|
NA
|
+
|
−
|
−
|
−
|
| |
24
|
M
|
NA/1 y + 9 m
|
93.0 (> 97th)
|
14.9 (50th–75th)
|
+
|
−
|
−
|
−
|
| |
25
|
M
|
11 m/14 m
|
79.0 (50th–75th)
|
10 (25th–50th)
|
+
|
−
|
−
|
−
|
| |
26
|
M
|
1.5 y/4 y
|
25th–50th
|
NA
|
+
|
−
|
−
|
−
|
| |
27
|
M
|
1.3 y/2.3 y
|
95.0 (75th–90th)
|
14.0 (50th–75th)
|
+
|
−
|
−
|
−
|
| |
28
|
F
|
1 y/6 y
|
111.4 (10th–25th)
|
19 (25th–50th)
|
+
|
−
|
−
|
−
|
| |
29
|
M
|
1 y/2 y
|
NA
|
NA
|
+
|
−
|
−
|
−
|
| |
30
|
M
|
1 y/16 y
|
NA
|
NA
|
+
|
−
|
−
|
−
|
| |
31
|
M
|
NA/14 y
|
NA
|
NA
|
+
|
−
|
−
|
−
|
| |
32
|
M
|
NA/6 y
|
NA
|
NA
|
+
|
−
|
−
|
−
|
| |
33
|
F
|
NA/18 m
|
NA
|
NA
|
+
|
−
|
−
|
−
|
|
Disease subtype
|
No
|
Gender
|
Serum ALP (U/L)
|
Serum Ca (mmol/L)
|
Serum P (mmol/L)
|
Serum 25(OH)D3 (ng/mL)
|
Serum i-PTH (pg/mL)
|
Urinary Ca/Cr
|
Prognosis
|
References
|
|---|
|
Perinatal lethal
|
1
|
M
|
< 5 ↓
|
Normal
|
Normal
|
NA
|
NA
|
NA
|
Die
|
[31]
|
| |
2
|
M
|
< 5 ↓
|
2.2
|
2.78 ↑
|
NA
|
33.4
|
NA
|
Die
|
[32]
|
|
Infantile
|
3
|
M
|
26 ↓
|
3.46 ↑
|
1.92 ↑
|
19.0
|
12.8
|
0.19
|
NA
|
PA-1
|
| |
4
|
F
|
7 ↓
|
2.80 ↑
|
1.38
|
Normal
|
2.7 ↓
|
1.25 ↑
|
Die
|
PA-2
|
| |
5
|
M
|
6 ↓
|
4.22 ↑
|
1.41
|
Normal
|
2.5 ↓
|
2.95↑
|
Die
|
PA-3
|
| |
6
|
M
|
16 ↓
|
3.87 ↑
|
1.41
|
19.0
|
< 1 ↓
|
2.35 ↑
|
NA
|
PA-4
|
| |
7
|
M
|
5 ↓
|
3.07 ↑
|
1.23
|
34.0
|
< 1 ↓
|
2.26 ↑
|
Die
|
PA-5
|
| |
8
|
F
|
23 ↓
|
4.37 ↑
|
1.31
|
24.4
|
< 1 ↓
|
1.51 ↑
|
Die
|
PA-6
|
| |
9
|
M
|
5 ↓
|
3.10 ↑
|
2.10 ↑
|
NA
|
2.91 ↓
|
NA
|
Die
|
[5]
|
| |
10
|
M
|
9 ↓
|
3.19 ↑
|
Normal
|
NA
|
3.5 ↓
|
NA
|
NA
|
[33]
|
| |
11
|
F
|
12 ↓
|
2.90 ↑
|
1.52
|
NA
|
10.36
|
2.70 ↑
|
Die
|
[34]
|
| |
12
|
M
|
25 ↓
|
3.33 ↑
|
1.34
|
Normal
|
< 1 ↓
|
NA
|
Die
|
[35]
|
|
Childhood
|
13
|
M
|
36 ↓
|
2.19
|
2.23 ↑
|
NA
|
10
|
NA
|
Live
|
PA-7
|
| |
14
|
F
|
42 ↓
|
2.40
|
2.0 ↑
|
Normal
|
2.91 ↓
|
NA
|
Live
|
[5]
|
| |
15
|
M
|
67 ↓
|
2.5
|
1.7
|
Normal
|
14.19
|
NA
|
Live
|
[5]
|
| |
16
|
F
|
6 ↓
|
2.68
|
1.96 ↑
|
30.7
|
12.6
|
NA
|
Live
|
[6]
|
| |
17
|
M
|
26 ↓
|
2.48
|
1.89 ↑
|
Normal
|
8 ↓
|
NA
|
Live
|
[6]
|
| |
18
|
F
|
61 ↓
|
2.47
|
1.96 ↑
|
26.64
|
9.67 ↓
|
NA
|
Live
|
[36]
|
| |
19
|
M
|
27 ↓
|
NA
|
NA
|
NA
|
NA
|
NA
|
Live
|
[37]
|
| |
20
|
M
|
38 ↓
|
NA
|
NA
|
NA
|
NA
|
NA
|
Live
|
[37]
|
| |
21
|
F
|
6 ↓
|
2.55
|
1.33
|
5.4 ↓
|
17.62
|
NA
|
Live
|
[38]
|
| |
22
|
M
|
27 ↓
|
Normal
|
Normal
|
Normal
|
NA
|
NA
|
Live
|
[39]
|
|
Odonto
|
23
|
M
|
31 ↓
|
2.25
|
1.79
|
24.1
|
37.7
|
0.33 ↑
|
Live
|
PA-8
|
| |
24
|
M
|
73 ↓
|
2.54
|
2.11 ↑
|
NA
|
22.4
|
NA
|
Live
|
PA-9
|
| |
25
|
M
|
11 ↓
|
2.45
|
2.00 ↑
|
Normal
|
4.0↓
|
0.84 ↑
|
Live
|
PA-10
|
| |
26
|
M
|
42 ↓
|
2.2
|
1.66
|
Normal
|
3.27 ↓
|
NA
|
Live
|
[5]
|
| |
27
|
M
|
16 ↓
|
NA
|
Normal
|
↓
|
10.9
|
NA
|
Live
|
[40]
|
| |
28
|
F
|
22 ↓
|
2.45
|
2.03 ↑
|
NA
|
8.00 ↓
|
NA
|
Live
|
[6]
|
| |
29
|
M
|
29 ↓
|
2.77 ↑
|
2.24 ↑
|
NA
|
16.6
|
NA
|
Live
|
[6]
|
| |
30
|
M
|
17 ↓
|
2.52
|
1.82 ↑
|
Normal
|
54
|
NA
|
Live
|
[6]
|
| |
31
|
M
|
41.5 ↓
|
Normal
|
2.08 ↑
|
↓
|
Normal
|
NA
|
Live
|
[41]
|
| |
32
|
M
|
43.4 ↓
|
Normal
|
1.97
|
↓
|
Normal
|
NA
|
Live
|
[41]
|
| |
33
|
F
|
7 ↓
|
NA
|
NA
|
NA
|
NA
|
NA
|
Live
|
[37]
|
- M male, F female, h hour, d day, m month, y year, ALP alkaline phosphatase, Ca calcium, P phosphate, 25(OH)D3 25-hydroxyvitamin vitamin D3, i-PTH intact parathyroid hormone, Ca/Cr calcium/creatinine, Ref reference, NA not applicable, H high, L low. ↓ represents the value was below the normal range; ↑ represents the value was above the normal range
- Urine Ca/Cr and the blood biochemical parameters, including serum ALP, Ca, P, 25(OH)D3 and i-PTH were measured spectrophotometrically using routine assays in the central laboratory of Beijing Children’s Hospital, Capital Medical University. The normal range for serum ALP, Ca, P, 25 (OH) D3, PTH and urinary Ca/Cr were 58–400 U/L, 2.00–2.75 mmol/L, 1.10–1.80 mmol/L, 19.0–57.6 ng/mL, 10–69 pg/mL, 0.00–0.20, respectively
