|
1
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
11
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
12
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
14
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
15
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
17
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
18
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
19
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
22
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
23
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
24
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
25
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
26
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
27
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
28
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
29
|
(HPO:0007020)
|
Progressive spastic paraplegia |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
31
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
32
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
33
|
(HPO:0010677)
|
Enuresis nocturna |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
35
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
36
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
37
|
(OMIM)
|
Dysfunctional voiding |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0005340)
|
Spastic/hyperactive bladder |
|
|
|
|
4 / 7739
|
|
39
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
40
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
|
41
|
(OMIM)
|
Slowly progressive spastic paraplegia |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Scissors gait |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
44
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
47
|
(HPO:0012407)
|
Scissor gait |
|
|
|
|
6 / 7739
|