|
1
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0006191)
|
Deep palmar crease |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
10
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
15
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
|
16
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
18
|
(HPO:0007495)
|
Prematurely aged appearance |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
19
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
20
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
21
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
22
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
23
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
24
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
27
|
(HPO:0000269)
|
Prominent occiput |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
28
|
(HPO:0009125)
|
Lipodystrophy |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
29
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
30
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
31
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
32
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
33
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
34
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
35
|
(HPO:0007414)
|
Neonatal wrinkled skin of hands and feet |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
|
37
|
(HPO:0009004)
|
Hypoplasia of the musculature |
|
|
|
|
7 / 7739
|
|
38
|
(HPO:0011995)
|
Atrial septal aneurysm |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Abnormal elastic fibers on skin biopsy |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Prominent anterior thoracic venous pattern |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
43
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
46
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
47
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
48
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
49
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
50
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
51
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
52
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
53
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
54
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
55
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
56
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
57
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
58
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
59
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
60
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
61
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
62
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
63
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
64
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
65
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
66
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
67
|
(HPO:0001788)
|
Premature rupture of membranes |
|
|
|
|
5 / 7739
|
|
68
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
69
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
70
|
(HPO:0001869)
|
Deep plantar creases |
|
|
|
|
14 / 7739
|
|
71
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
72
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
73
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
74
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
75
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
|
|
10 / 7739
|
|
76
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|