1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
5
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
7
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
10
|
(HPO:0000384)
|
Preauricular skin tag |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
13
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
14
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
15
|
(HPO:0000668)
|
Hypodontia |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
16
|
(HPO:0000689)
|
Dental malocclusion |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
17
|
(HPO:0010807)
|
Open bite |
|
|
|
|
6 / 7739
|
18
|
(HPO:0000767)
|
Pectus excavatum |
rare [HPO:skoehler]
|
|
|
|
244 / 7739
|
19
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
|
|
22 / 7739
|
20
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
21
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
22
|
(HPO:0001182)
|
Tapered finger |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
23
|
(HPO:0001363)
|
Craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
132 / 7739
|
24
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
25
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
26
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
27
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
28
|
(HPO:0001653)
|
Mitral regurgitation |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
29
|
(HPO:0001931)
|
Hypochromic anemia |
|
|
|
|
5 / 7739
|
30
|
(HPO:0001935)
|
Microcytic anemia |
|
|
|
|
32 / 7739
|
31
|
(HPO:0002015)
|
Dysphagia |
rare [HPO:skoehler]
|
|
|
|
301 / 7739
|
32
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
33
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
34
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
35
|
(HPO:0009536)
|
Short 2nd finger |
|
|
|
|
6 / 7739
|
36
|
(HPO:0010511)
|
Long toe |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
37
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
38
|
(HPO:0011343)
|
Moderate global developmental delay |
|
|
|
|
5 / 7739
|
39
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
|
|
18 / 7739
|
40
|
(OMIM)
|
Extra frontal hair whorl |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Bulging midface (in some patients) |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Parotid gland dysfunction (in some patients) |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
44
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
45
|
(OMIM)
|
Severe hypertelorism |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Myopia, progressive severe |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Absence or dysfunction of nasolacrimal structures |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Pointed nasal tip |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Thin upper vermilion border |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Loss of lamina dura |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Thin or hypoplastic enamel |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Worn-out teeth (in some patients) |
|
|
|
|
1 / 7739
|
53
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
54
|
(OMIM)
|
Intraventricular conduction delay |
|
|
|
|
7 / 7739
|
55
|
(OMIM)
|
Patent ductus arteriosus, small (in some patients) |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Atrioventricular canal, total (in some patients) |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Pectus excavatum (in some patients |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Absent gonad activity |
|
|
|
|
1 / 7739
|
59
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
60
|
(OMIM)
|
Long bone fractures |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Thumb deviation |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Ectopic finger creases |
|
|
|
|
1 / 7739
|
63
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
64
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
65
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
66
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
67
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
68
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
69
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
70
|
(OMIM)
|
Unclear speech |
|
|
|
|
1 / 7739
|
71
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
|
|
15 / 7739
|
72
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|