1
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
2
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
3
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
4
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
5
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
7
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
8
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
9
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
11
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
12
|
(HPO:0001373)
|
Joint dislocation |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
13
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
14
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
15
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
16
|
(HPO:0002816)
|
Genu recurvatum |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
18
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
19
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
20
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
21
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
22
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
23
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
24
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
25
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
26
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
27
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
28
|
(HPO:0009125)
|
Lipodystrophy |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
29
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
30
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
31
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
32
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
34
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
35
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
36
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
37
|
(HPO:0004305)
|
Involuntary movements |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
38
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
39
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
41
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
42
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
43
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
44
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
45
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
46
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
47
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
48
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
49
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
50
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
51
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
52
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
53
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
54
|
(HPO:0001084)
|
Corneal arcus |
|
|
|
|
8 / 7739
|
55
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
56
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
57
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
58
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
59
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
60
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
61
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
62
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
63
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
64
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
65
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
66
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
67
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
68
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
69
|
(HPO:0007394)
|
Prominent superficial blood vessels |
|
|
|
|
2 / 7739
|
70
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
71
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
72
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|