|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
3
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
13
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
16
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
18
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
19
|
(HPO:0004331)
|
Decreased skull ossification |
|
|
|
|
31 / 7739
|
|
20
|
(HPO:0005450)
|
Calvarial osteosclerosis |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0006645)
|
Thin clavicles |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0008198)
|
Congenital hypoparathyroidism |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
24
|
(OMIM)
|
Birth weight <2,500gm |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Broad cheeks |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Long, thin clavicles |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Absent diploic space |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Medullary stenosis of tubular bones |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Internal cortical thickening |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0002199)
|
Hypocalcemic seizures |
|
|
|
|
6 / 7739
|
|
31
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
|
|
22 / 7739
|
|
32
|
(OMIM)
|
Low to low-normal magnesium |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|