1
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
2
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
3
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
2/9 [HPO:probinson]
|
|
18697827
|
IBIS
|
832 / 7739
|
5
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
6
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
7
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
2/9 [HPO:probinson]
|
|
18697827
|
IBIS
|
105 / 7739
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
9
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
10
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
11
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
12
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
3/9 [HPO:probinson]
|
|
18697827
|
IBIS
|
1245 / 7739
|
14
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
5/9 [HPO:probinson]
|
|
18697827
|
IBIS
|
1232 / 7739
|
15
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
2/9 [HPO:probinson]
|
|
|
|
576 / 7739
|
16
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
17
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
18
|
(HPO:0000218)
|
High palate |
3/9 [HPO:probinson]
|
|
18697827
|
IBIS
|
356 / 7739
|
19
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
20
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
21
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
22
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
23
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
24
|
(HPO:0000221)
|
Furrowed tongue |
|
|
|
|
24 / 7739
|
25
|
(HPO:0000297)
|
Facial hypotonia |
|
|
|
|
8 / 7739
|
26
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
27
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
28
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
29
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
30
|
(HPO:0000350)
|
Small forehead |
|
|
|
|
2 / 7739
|
31
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
32
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
33
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
34
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
35
|
(HPO:0000699)
|
Diastema |
|
|
|
|
10 / 7739
|
36
|
(HPO:0000711)
|
Restlessness |
|
|
|
|
18 / 7739
|
37
|
(HPO:0000718)
|
Aggressive behavior |
4/9 [HPO:probinson]
|
|
18697827
|
IBIS
|
109 / 7739
|
38
|
(HPO:0000744)
|
Low frustration tolerance |
|
|
|
|
3 / 7739
|
39
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
40
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
41
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
42
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
43
|
(HPO:0002229)
|
Alopecia areata |
|
|
|
|
5 / 7739
|
44
|
(HPO:0002362)
|
Shuffling gait |
|
|
|
|
13 / 7739
|
45
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
46
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
47
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
48
|
(HPO:0006895)
|
Lower limb hypertonia |
|
|
|
|
4 / 7739
|
49
|
(HPO:0007020)
|
Progressive spastic paraplegia |
|
|
|
|
5 / 7739
|
50
|
(HPO:0008124)
|
Talipes calcaneovarus |
|
|
|
|
1 / 7739
|
51
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
|
|
12 / 7739
|
52
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
53
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
54
|
(OMIM)
|
Raised earlobes |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Small eyelashes |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Small, deep-set eyes |
|
|
|
|
2 / 7739
|
57
|
(OMIM)
|
Thick distal phalanges |
|
|
|
|
1 / 7739
|
58
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
59
|
(OMIM)
|
Talipes calcaneus |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Abundant body hair |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Slowly progressive spastic paraplegia |
|
|
|
|
2 / 7739
|
62
|
(OMIM)
|
Pyramidal syndrome of the lower limbs |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Indolence |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Outbursts |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
66
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
67
|
(HPO:0009466)
|
Radial deviation of finger |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
68
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
69
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|