|
1
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
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90 / 7739
|
|
2
|
(HPO:0000460)
|
Narrow nose |
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|
|
|
14 / 7739
|
|
3
|
(HPO:0000482)
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Microcornea |
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|
|
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102 / 7739
|
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4
|
(HPO:0000506)
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Telecanthus |
|
|
|
|
156 / 7739
|
|
5
|
(HPO:0000568)
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Microphthalmia |
|
|
|
|
183 / 7739
|
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6
|
(HPO:0000682)
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Abnormality of dental enamel |
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0005622)
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Broad long bones |
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|
|
|
8 / 7739
|
|
9
|
(HPO:0005768)
|
2-4 toe cutaneous syndactyly |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0005769)
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Fifth finger distal phalanx clinodactyly |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0006482)
|
Abnormality of dental morphology |
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0007930)
|
Prominent epicanthal folds |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0010705)
|
4-5 finger syndactyly |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Long, narrow nose |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Dysplastic iris |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hyaloid system remnants |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Obtuse mandibular angle |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Syndactyly of fingers 4 and 5 |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Wide diaphyses hand and foot bones |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
22
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
23
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
24
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
25
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
26
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
27
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
28
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
29
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
30
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
31
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
32
|
(HPO:0000675)
|
Macrodontia of permanent maxillary central incisor |
|
|
|
|
7 / 7739
|
|
33
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
34
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
35
|
(HPO:0000685)
|
Hypoplasia of teeth |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
37
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
38
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
39
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
40
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
41
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
42
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
43
|
(HPO:0009748)
|
Large earlobe |
|
|
|
|
27 / 7739
|
|
44
|
(HPO:0009917)
|
Persistent pupillary membrane |
|
|
|
|
6 / 7739
|
|
45
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
|
46
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|