1
|
(HPO:0000045)
|
Abnormality of the scrotum |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
3
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
4
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
5
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
6
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
7
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
8
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
9
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
10
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
12
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
13
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
14
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
15
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
16
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
17
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
18
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
19
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
20
|
(HPO:0002383)
|
Encephalitis |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
22
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
23
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
24
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
25
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
26
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
29
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
30
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
31
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
32
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
33
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
34
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
35
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
36
|
(HPO:0000951)
|
Abnormality of the skin |
Frequent [Orphanet]
|
|
|
|
147 / 7739
|
37
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
38
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
39
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
40
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
41
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
42
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
43
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
44
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
45
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
46
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
47
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
48
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
49
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
51
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
52
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
53
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
54
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
55
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
56
|
(HPO:0000900)
|
Thickened ribs |
|
|
|
|
9 / 7739
|
57
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
58
|
(HPO:0001071)
|
Angiokeratoma corporis diffusum |
|
|
|
|
7 / 7739
|
59
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
60
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
61
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
62
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
63
|
(HPO:0001654)
|
Abnormality of the heart valves |
|
|
|
|
49 / 7739
|
64
|
(HPO:0001922)
|
Vacuolated lymphocytes |
|
|
|
|
13 / 7739
|
65
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
66
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
67
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
68
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
69
|
(HPO:0007313)
|
Cerebral degeneration |
|
|
|
|
4 / 7739
|
70
|
(HPO:0008166)
|
Decreased beta-galactosidase activity |
|
|
|
|
6 / 7739
|
71
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
72
|
(HPO:0010729)
|
Cherry red spot of the macula |
typical [HPO:skoehler]
|
|
|
|
10 / 7739
|