|
1
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
6
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000475)
|
Broad neck |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
12
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
13
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
14
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
15
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
16
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
20
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
21
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
22
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
23
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
25
|
(HPO:0004324)
|
Increased body weight |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
27
|
(HPO:0005590)
|
Spotty hypopigmentation |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
|
28
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
29
|
(HPO:0007103)
|
Hypointensity of cerebral white matter on MRI |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0007874)
|
Almond-shaped palpebral fissure |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
32
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
33
|
(HPO:0010529)
|
Echolalia |
|
|
|
|
20 / 7739
|
|
34
|
(HPO:0010721)
|
Abnormal hair whorl |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0011356)
|
Regional abnormality of skin |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
37
|
(MedDRA:10047899)
|
Weight increased |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Wide face |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
|
40
|
(OMIM)
|
Short broad neck |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Broad first toe |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Hypopigmented spots (less common) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Hair whorls |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Myxedematous appearance |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Lack of speech or poor speech |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
White matter hypodensities on brain imaging |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|