1
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
4
|
(HPO:0010769)
|
Pilonidal sinus |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
5
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
6
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
8
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
9
|
(HPO:0002999)
|
Patellar dislocation |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
10
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
11
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
12
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
13
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
14
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
15
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
16
|
(HPO:0000615)
|
Abnormality of the pupil |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
17
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
18
|
(HPO:0011069)
|
Increased number of teeth |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
19
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
20
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
21
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
22
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
23
|
(HPO:0010620)
|
Malar prominence |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
24
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
25
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
28
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
29
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
30
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
31
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
32
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
33
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
34
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
35
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
36
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
37
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
38
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
39
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
40
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
41
|
(HPO:0010499)
|
Patellar subluxation |
|
|
|
|
3 / 7739
|
42
|
(OMIM)
|
Double row lower incisors |
|
|
|
|
1 / 7739
|
43
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
44
|
(HPO:0010781)
|
Skin dimples |
|
|
|
|
5 / 7739
|
45
|
(HPO:0100276)
|
Skin pit |
|
|
|
|
1 / 7739
|
46
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
47
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
48
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
49
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
51
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
52
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
53
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
54
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|