1
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
25731960; 24569605
|
IBIS
|
57 / 7739
|
2
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
3
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
4
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
5
|
(HPO:0000897)
|
Rachitic rosary |
|
|
|
|
5 / 7739
|
6
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
7
|
(HPO:0001024)
|
Skin dimple over apex of long bone angulation |
|
|
|
|
3 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
|
|
25731960
|
IBIS
|
1245 / 7739
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
24569605
|
IBIS
|
990 / 7739
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
25731960
|
IBIS
|
859 / 7739
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
25731960; 24569605
|
IBIS
|
454 / 7739
|
12
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
13
|
(HPO:0002013)
|
Vomiting |
|
|
24569605
|
IBIS
|
191 / 7739
|
14
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
15
|
(HPO:0002039)
|
Anorexia |
|
|
|
|
62 / 7739
|
16
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
17
|
(HPO:0002150)
|
Hypercalciuria |
|
|
25731960
|
IBIS
|
45 / 7739
|
18
|
(HPO:0002170)
|
Intracranial hemorrhage |
|
|
|
|
40 / 7739
|
19
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
20
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
21
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
22
|
(HPO:0003072)
|
Hypercalcemia |
|
|
25731960
|
IBIS
|
36 / 7739
|
23
|
(HPO:0003239)
|
Phosphoethanolaminuria |
|
|
|
|
3 / 7739
|
24
|
(HPO:0004331)
|
Decreased skull ossification |
|
|
|
|
31 / 7739
|
25
|
(HPO:0008428)
|
Vertebral clefting |
|
|
|
|
4 / 7739
|
26
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
27
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
28
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
25731960
|
IBIS
|
482 / 7739
|
29
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
30
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
25731960
|
IBIS
|
153 / 7739
|
31
|
(HPO:0000239)
|
Large fontanelles |
|
|
25731960
|
IBIS
|
135 / 7739
|
32
|
(HPO:0002748)
|
Rickets |
|
|
25731960
|
IBIS
|
41 / 7739
|
33
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
25731960
|
IBIS
|
78 / 7739
|
34
|
(HPO:0001522)
|
Death in infancy |
|
|
25731960
|
IBIS
|
275 / 7739
|
35
|
(HPO:0001363)
|
Craniosynostosis |
|
|
18769927; 25731960; 24569605
|
IBIS
|
132 / 7739
|
36
|
(HPO:0006323)
|
Premature loss of primary teeth |
|
|
19232125; 25731960
|
IBIS
|
18 / 7739
|
37
|
(HPO:0002015)
|
Dysphagia |
|
|
24569605
|
IBIS
|
301 / 7739
|
38
|
(HPO:0001270)
|
Motor delay |
|
|
24569605
|
IBIS
|
322 / 7739
|
39
|
(HPO:0002421)
|
Poor head control |
|
|
24569605
|
IBIS
|
23 / 7739
|
40
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
24569605
|
IBIS
|
64 / 7739
|
41
|
(HPO:0002789)
|
Tachypnea |
|
|
24569605
|
IBIS
|
48 / 7739
|
42
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
24569605
|
IBIS
|
47 / 7739
|
43
|
(HPO:0003282)
|
Low alkaline phosphatase |
|
|
24569605
|
IBIS
|
7 / 7739
|
44
|
(HPO:0002703)
|
Abnormality of skull ossification |
|
|
24569605
|
IBIS
|
1 / 7739
|
45
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
24569605
|
IBIS
|
80 / 7739
|