|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0003298)
|
Spina bifida occulta |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0000978)
|
Bruising susceptibility |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
9
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
10
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
11
|
(HPO:0100651)
|
Type I diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
13
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
15
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
20
|
(HPO:0000621)
|
Entropion |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
22
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
23
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
|
24
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
25
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
26
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
28
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
29
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
31
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
32
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
33
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
34
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
35
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
36
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
37
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
38
|
(HPO:0001128)
|
Trichiasis |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
40
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
41
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
42
|
(HPO:0002552)
|
Trichodysplasia |
|
|
|
|
4 / 7739
|
|
43
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
44
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
45
|
(HPO:0008024)
|
Congenital nuclear cataract |
|
|
|
|
5 / 7739
|
|
46
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
47
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
48
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
49
|
(OMIM)
|
Minor malformations of limbs |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Bilateral nuclear cataract |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Oligodentia |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Mild facial dysmorphia |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0001215)
|
Camptodactyly of 2nd-5th fingers |
|
|
|
|
8 / 7739
|
|
54
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
|
|
27 / 7739
|
|
55
|
(OMIM)
|
Scaling, hyperchromic spots on limbs |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Hypohydrosis |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Excessive bruising and scarring after injuries and scratching |
|
|
|
|
1 / 7739
|
|
58
|
(HPO:0001804)
|
Hypoplastic fingernail |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
59
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
60
|
(HPO:0002803)
|
Congenital contracture |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
61
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
62
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
63
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
64
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
65
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
67
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
68
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|