|
1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
11
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
15
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
16
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
17
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
18
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
19
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
20
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
21
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
22
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
23
|
(HPO:0002777)
|
Tracheal stenosis |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
24
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
25
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
26
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
28
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
29
|
(HPO:0100830)
|
Round ear |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
30
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
21415077
|
IBIS
|
322 / 7739
|
|
31
|
(HPO:0001602)
|
Laryngeal stenosis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
32
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
33
|
(HPO:0001654)
|
Abnormality of the heart valves |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
35
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
36
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
37
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
38
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
39
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
40
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
45
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
46
|
(HPO:0000391)
|
Thickened helices |
|
|
|
|
8 / 7739
|
|
47
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
48
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
49
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
50
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
|
|
13 / 7739
|
|
51
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
52
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
53
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
54
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
55
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
56
|
(HPO:0001718)
|
Mitral stenosis |
|
|
|
|
10 / 7739
|
|
57
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
58
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
59
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
60
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
|
61
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
62
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
63
|
(HPO:0005041)
|
Irregular capital femoral epiphysis |
|
|
|
|
5 / 7739
|
|
64
|
(HPO:0006161)
|
Short metacarpals with rounded proximal ends |
|
|
|
|
2 / 7739
|
|
65
|
(HPO:0010446)
|
Tricuspid stenosis |
|
|
|
|
5 / 7739
|
|
66
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
67
|
(HPO:0100679)
|
Lack of skin elasticity |
|
|
|
|
29 / 7739
|