1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000625)
|
Cleft eyelid |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
9
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
11
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
14
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
15
|
(HPO:0009829)
|
Phocomelia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
16
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
18
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
19
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
20
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
21
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
22
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
23
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
24
|
(HPO:0002814)
|
Abnormality of the lower limb |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
25
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
26
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
27
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
28
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
29
|
(HPO:0000211)
|
Trismus |
|
|
|
|
9 / 7739
|
30
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
|
|
|
|
10 / 7739
|
31
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
32
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
33
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
34
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
35
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
36
|
(HPO:0000652)
|
Lower eyelid coloboma |
|
|
|
|
9 / 7739
|
37
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
38
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
39
|
(HPO:0001025)
|
Urticaria |
|
|
|
|
73 / 7739
|
40
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
41
|
(HPO:0001543)
|
Gastroschisis |
|
|
|
|
11 / 7739
|
42
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
43
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
44
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
45
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
46
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
47
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
48
|
(HPO:0001845)
|
Overlapping toe |
|
|
|
|
18 / 7739
|
49
|
(HPO:0001849)
|
Foot oligodactyly |
|
|
|
|
9 / 7739
|
50
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
51
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
52
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
53
|
(HPO:0002410)
|
Aqueductal stenosis |
|
|
|
|
19 / 7739
|
54
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
55
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
56
|
(HPO:0003319)
|
Abnormality of the cervical spine |
|
|
|
|
6 / 7739
|
57
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
58
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
59
|
(HPO:0005349)
|
Hypoplasia of the epiglottis |
|
|
|
|
7 / 7739
|
60
|
(HPO:0006657)
|
Hypoplasia of first ribs |
|
|
|
|
3 / 7739
|
61
|
(HPO:0007776)
|
Sparse lower eyelashes |
|
|
|
|
3 / 7739
|
62
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
63
|
(HPO:0008749)
|
Laryngeal hypoplasia |
|
|
|
|
5 / 7739
|
64
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
65
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
66
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
67
|
(OMIM)
|
Partial-total absence of lower eyelashes |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Duplicated calyx |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Hypoplastic zygomatic arch |
|
|
|
|
1 / 7739
|
70
|
(HPO:0009821)
|
Forearm undergrowth |
|
|
|
|
8 / 7739
|
71
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
72
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
73
|
(MedDRA:10046752)
|
Urticaria pigmentosa |
|
|
|
|
3 / 7739
|
74
|
(HPO:0200102)
|
Sparse or absent eyelashes |
|
|
|
|
64 / 7739
|
75
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
76
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
77
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
78
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
79
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
80
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
81
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
82
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
83
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
84
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
85
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
86
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|