|
1
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
4
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
6
|
(HPO:0001760)
|
Abnormality of the foot |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000574)
|
Thick eyebrow |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
9
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
12
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0010783)
|
Erythema |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
16
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0100760)
|
Clubbing of toes |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
20
|
(HPO:0000974)
|
Hyperextensible skin |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
24
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
25
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
26
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
27
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
28
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
29
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
30
|
(HPO:0001176)
|
Large hands |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
31
|
(HPO:0000965)
|
Cutis marmorata |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
32
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
33
|
(HPO:0000282)
|
Facial edema |
|
|
|
|
5 / 7739
|
|
34
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
35
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
36
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
37
|
(HPO:0009836)
|
Broad distal phalanx of finger |
|
|
|
|
8 / 7739
|
|
38
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
39
|
(OMIM)
|
Notable friendly behavior |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
41
|
(HPO:0000159)
|
Abnormality of the lip |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
42
|
(HPO:0000168)
|
Abnormality of the gingiva |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
46
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|