|
1
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
2
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
3
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
4
|
(HPO:0000897)
|
Rachitic rosary |
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0001024)
|
Skin dimple over apex of long bone angulation |
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001363)
|
Craniosynostosis |
|
|
18769927; 25731960
|
IBIS
|
132 / 7739
|
|
8
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
9
|
(HPO:0002515)
|
Waddling gait |
|
|
25731960
|
IBIS
|
56 / 7739
|
|
10
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
12
|
(HPO:0003239)
|
Phosphoethanolaminuria |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0003282)
|
Low alkaline phosphatase |
|
|
25731960; 24569605
|
IBIS
|
7 / 7739
|
|
14
|
(HPO:0003491)
|
Elevated urine pyrophosphate |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0006323)
|
Premature loss of primary teeth |
|
|
19232125; 25731960; 24569605
|
IBIS
|
18 / 7739
|
|
17
|
(HPO:0011864)
|
Elevated plasma pyrophosphate |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0002748)
|
Rickets |
|
|
25731960
|
IBIS
|
41 / 7739
|
|
19
|
(HPO:0100717)
|
Abnormality of the cementum |
|
|
25731960
|
IBIS
|
2 / 7739
|
|
20
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
25731960
|
IBIS
|
53 / 7739
|
|
21
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
25731960
|
IBIS
|
47 / 7739
|
|
22
|
(HPO:0001324)
|
Muscle weakness |
|
|
25731960
|
IBIS
|
859 / 7739
|
|
23
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
25731960
|
IBIS
|
37 / 7739
|
|
24
|
(HPO:0000682)
|
Abnormality of dental enamel |
|
|
24569605
|
IBIS
|
102 / 7739
|
|
25
|
(HPO:0003326)
|
Myalgia |
|
|
24569605
|
IBIS
|
143 / 7739
|
|
26
|
(HPO:0002857)
|
Genu valgum |
|
|
24569605
|
IBIS
|
144 / 7739
|
|
27
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
24569605
|
IBIS
|
64 / 7739
|