|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0000046)
|
Scrotal hypoplasia |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
9
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
10
|
(HPO:0009738)
|
Abnormality of the antihelix |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
12
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
13
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
14
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
15
|
(HPO:0003042)
|
Elbow dislocation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
16
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
21
|
(HPO:0003100)
|
Slender long bone |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
22
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
23
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
24
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
25
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
26
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
27
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
28
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
29
|
(HPO:0006487)
|
Bowing of the long bones |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
31
|
(HPO:0001012)
|
Multiple lipomas |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
32
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
33
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
|
34
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
35
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
36
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
37
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
38
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
39
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
40
|
(HPO:0001245)
|
Small thenar eminence |
|
|
|
|
10 / 7739
|
|
41
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
42
|
(HPO:0001780)
|
Abnormality of toe |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
|
43
|
(HPO:0002414)
|
Spina bifida |
|
|
|
|
47 / 7739
|
|
44
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
45
|
(HPO:0003457)
|
EMG abnormality |
|
|
|
|
78 / 7739
|
|
46
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
47
|
(HPO:0004404)
|
Abnormality of the nipple |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
48
|
(HPO:0005689)
|
Dermatoglyphic ridges abnormal |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
50
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
51
|
(HPO:0010487)
|
Small hypothenar eminence |
|
|
|
|
4 / 7739
|
|
52
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
53
|
(OMIM)
|
Interphalangeal finger creases absent |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Thenar and hypothenar hypoplasia |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Whorls, seven or more digits |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Numerous palmar creases |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Sweat pores abnormal |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Hypoplasia |
|
|
|
|
2 / 7739
|
|
59
|
(OMIM)
|
Creatine kinase high |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
61
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
62
|
(HPO:0008544)
|
Abnormally folded helix |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
63
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|