1
|
F
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
No
|
Two café-au-lait spots, autoimmune thyroiditis
| |
4
|
Full PHP1B—broad
|
94
|
7
|
27
|
3
|
90**
|
10**
|
8**
|
34*
|
13**
|
2*
|
M
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
No
| |
3
|
Full PHP1B—broad
|
80
|
7
|
8
|
2
|
89**
|
10**
|
8**
|
6**
|
12**
|
3
|
M
|
Yes
| |
Yes
|
Yes
|
No
|
No
|
Von Willebrand disease
|
5
|
Full PHP1B—broad
|
88
|
4
|
6
|
0
|
88**
|
10**
|
8**
|
7**
|
13**
|
4*
|
M
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
| |
1
|
Full PHP1B—broad
|
92
| |
8
|
7
|
89**
|
10**
|
8**
|
7**
|
13**
|
5*
|
M
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
| |
3
|
Full PHP1B—broad
|
82
|
7
|
8
|
2
|
89**
|
9**
|
8**
|
7**
|
12**
|
6
|
F
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
| |
1
|
Full PHP1B—broad
|
92
| |
10
|
9
|
89**
|
9**
|
7**
|
5**
|
12**
|
7
|
M
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
|
Bilateral cryptorchidism, osteopenia of hands, behavior problems
|
4
|
Full PHP1B—broad
|
95
|
5
|
4
|
3
|
89**
|
9**
|
8**
|
5**
|
12**
|
8*
|
F
|
Yes
| |
Yes
|
No
|
No
|
Yes
| |
5
|
Full PHP1B—broad
|
90
|
3
|
4
|
0
|
89**
|
10**
|
8**
|
6**
|
12**
|
9
|
F
|
Yes
|
Yes
|
Yes
|
No
| |
No
|
Enchondromatosis
|
5
|
Partial PHP1B—broad
|
83
|
23
|
34
|
33
|
63
|
27
|
23
|
24*
|
35
|
10
|
F
|
Yes
|
No
|
Yes
|
Yes
|
No
|
Yes
|
Exostosis
|
4
|
Partial PHP1B—broad
|
84
|
20
|
24
|
13
|
75*
|
22*
|
16**
|
33*
|
31
|
11
|
F
|
Yes
| | | | | | |
5
|
Partial PHP1B—broad
|
80
|
10
|
27
|
14
|
78*
|
23*
|
19*
|
34*
|
28
|
12*
|
M
|
Yes
|
Yes
|
Yes
|
No
|
No
|
No
|
Severe hypertension with organ damage, hypercalciuria
|
3
|
Full PHP1B—broad
|
77
|
8
|
8
|
3
|
75*
|
12**
|
8**
|
7**
|
17**
|
13*
|
F
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
Yes
| |
3
|
Partial PHP1A—broad
|
76
|
8
|
7
|
5
|
73*
|
15**
|
9**
|
5**
|
21*
|
14*
|
M
|
Yes
|
Yes
|
Yes
|
No
|
No
|
No
| |
3
|
Partial PHP1B—broad
|
80
|
10
|
19
|
29
|
76*
|
19**
|
13**
|
30*
|
21*
|
15
|
F
|
Yes
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
Langerhans cell histiocytosis, neonatal hydrocephaly, sessile exostosis
|
4
|
Partial PHP1A—broad
|
86
|
18
|
18
|
7
|
81**
|
18**
|
15**
|
32*
|
21*
|
16
|
F
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
No
|
Fahr’s syndrome (calcifications of basal ganglia), autoimmune thyroiditis
|
4
|
Partial PHP1B—broad
|
91
|
12
|
30
|
7
|
85**
|
17**
|
16**
|
43
|
21*
|
17
|
F
|
Yes
|
No
|
Yes
|
No
|
No
|
No
| |
ΔSTX16
|
3
|
PHP1B—A/B only
|
42
|
36
|
44
|
6
|
46
|
36
|
16**
|
45
|
14**
|
18*
|
F
|
Yes
|
Yes
|
No
|
No
| | | |
ΔSTX16
|
2
|
PHP1B—A/B only
|
-
|
-
|
-
|
4
|
50
|
37
|
14**
|
47
|
14**
|
19
|
M
|
Yes
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
Calcifications of basal ganglia
|
ΔSTX16
|
4
|
PHP1B—A/B only
|
49
|
42
|
52
|
3
|
50
|
41
|
18**
|
48
|
15**
|
20
|
F
|
Yes
|
No
|
Yes
|
Yes
|
No
|
Yes
| |
ΔSTX16
|
1
|
PHP1B—A/B only
|
39
|
-
|
36
|
10
|
50
|
40
|
16**
|
50
|
15**
|
21
|
M
|
Yes
|
Yes
|
No
|
Yes
| | | |
ΔSTX16
|
2
|
PHP1B—A/B only
|
-
|
-
|
-
|
4
|
52
|
41
|
16**
|
51
|
13**
|
22
|
M
|
Yes
|
No
|
Yes
|
No
|
No
|
No
| |
ΔSTX16
|
1
|
PHP1B—A/B only
|
29
|
-
|
38
|
14
|
53
|
42
|
14**
|
51
|
14**
|
23*
|
F
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
| | |
3
|
Partial PHP1B—broad
|
54
|
26
|
30
|
7
|
55
|
36
|
26
|
40
|
41
|
24
|
M
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
|
Severe osteopenia without ossifications
| |
5
|
Partial PHP1B—broad
|
70
|
35
|
46
|
44
|
57
|
39
|
34
|
41
|
43
|
|
50 ± 7
|
46 ± 7
|
39 ± 7
|
50 ± 4
|
51 ± 9
|