|
1
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
5
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
7
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
8
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
9
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
10
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
11
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
12
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
13
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
14
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
15
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
16
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
17
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
18
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
19
|
(HPO:0000699)
|
Diastema |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
21
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
22
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
23
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
24
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
25
|
(HPO:0001007)
|
Hirsutism |
rare [HPO:skoehler]
|
|
|
|
91 / 7739
|
|
26
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
27
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
28
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
29
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
30
|
(HPO:0001572)
|
Macrodontia |
|
|
|
|
9 / 7739
|
|
31
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
33
|
(HPO:0001929)
|
Reduced factor XI activity |
|
|
11228641
|
IBIS
|
7 / 7739
|
|
34
|
(HPO:0001976)
|
Reduced antithrombin III activity |
|
|
|
|
10 / 7739
|
|
35
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
36
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
37
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
38
|
(HPO:0003423)
|
Thoracolumbar kyphoscoliosis |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
40
|
(HPO:0004841)
|
Reduced factor XII activity |
|
|
11228641
|
IBIS
|
4 / 7739
|
|
41
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
42
|
(HPO:0007466)
|
Midfrontal capillary hemangioma |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0008070)
|
Sparse hair |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
44
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
45
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
46
|
(HPO:0009765)
|
Low hanging columella |
|
|
|
|
9 / 7739
|
|
47
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
|
48
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
49
|
(HPO:0011858)
|
Reduced factor IX activity |
|
|
11228641
|
IBIS
|
7 / 7739
|
|
50
|
(HPO:0012301)
|
Type II transferrin isoform profile |
|
|
|
|
6 / 7739
|
|
51
|
(OMIM)
|
Malar underdevelopment |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Obtuse lower incisor mandibular plane angle |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Hook nose |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Thin upper vermilion |
|
|
|
|
3 / 7739
|
|
55
|
(OMIM)
|
Short terminal phalanges |
|
|
|
|
5 / 7739
|
|
56
|
(OMIM)
|
Irregular position of the toes |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
58
|
(OMIM)
|
Hypertonia later |
|
|
|
|
3 / 7739
|
|
59
|
(OMIM)
|
Decreased coagulation factors IX, XI, XII |
|
|
|
|
1 / 7739
|
|
60
|
(MedDRA:10051120)
|
Protein S decreased |
|
|
|
|
1 / 7739
|
|
61
|
(MedDRA:10037005)
|
Protein C decreased |
|
|
|
|
2 / 7739
|
|
62
|
(OMIM)
|
GlcNAc-transferase II deficiency in fibroblast and mononuclear cells |
|
|
|
|
1 / 7739
|
|
63
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
64
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|