|
1
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
3
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
4
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
9
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
13
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
14
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
15
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
16
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
17
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
20
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
24
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
25
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
26
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
27
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
|
28
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
29
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
30
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
31
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
32
|
(HPO:0001800)
|
Hypoplastic toenails |
|
|
|
|
74 / 7739
|
|
33
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
34
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
35
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
36
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
37
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
38
|
(OMIM)
|
Bristly hair |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Peculiar facies |
|
|
|
|
7 / 7739
|
|
40
|
(OMIM)
|
Grooved tongue |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Anteverted auricles |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
45
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
46
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
47
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
48
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
50
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|