|
1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0000446)
|
Narrow nasal bridge |
Frequent [Orphanet]
12 of 22 [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
8
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
6 of 22 [HPO:skoehler]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
11
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
13
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
14
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
9 of 22 [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
17
|
(HPO:0009553)
|
Abnormality of the hairline |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0000964)
|
Eczema |
Frequent [Orphanet]
8 of 23 [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
|
21
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0100678)
|
Premature skin wrinkling |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
23
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
24
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
25
|
(HPO:0100760)
|
Clubbing of toes |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
27
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
28
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
29
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
13 of 23 [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
30
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
31
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
32
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
33
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
34
|
(HPO:0100759)
|
Clubbing of fingers |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
35
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
36
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
37
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
38
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
39
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
40
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
41
|
(HPO:0000687)
|
Widely spaced teeth |
11 of 21 [HPO:skoehler]
|
|
|
|
40 / 7739
|
|
42
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
43
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
44
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
45
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
46
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
47
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
48
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
49
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
50
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
51
|
(HPO:0006237)
|
Prominent interphalangeal joints |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0007946)
|
Unilateral narrow palpebral fissure |
9 of 22 [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
53
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
54
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
55
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
56
|
(OMIM)
|
Microcephaly, variable |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Sagging periorbital skin |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Broad nasal base |
|
|
|
|
2 / 7739
|
|
59
|
(OMIM)
|
Thick alae nasi |
|
|
|
|
2 / 7739
|
|
60
|
(OMIM)
|
Thin upper vermilion |
|
|
|
|
3 / 7739
|
|
61
|
(OMIM)
|
Thick lower vermilion |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Prominent distal phalanges |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Wrinkly skin |
|
|
|
|
2 / 7739
|
|
64
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
65
|
(OMIM)
|
Pale, sensitive skin |
|
|
|
|
1 / 7739
|
|
66
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
67
|
(OMIM)
|
Loss of eyebrows |
|
|
|
|
2 / 7739
|
|
68
|
(OMIM)
|
Dense or normal eyelashes |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Seizures, early onset |
|
|
|
|
3 / 7739
|
|
70
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
71
|
(OMIM)
|
Tantrums |
|
|
|
|
1 / 7739
|
|
72
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
73
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
74
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
75
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
76
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
77
|
(HPO:0012810)
|
Wide nasal base |
|
|
|
|
3 / 7739
|