1
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
2
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
6
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
7
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
8
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
10
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
11
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
12
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
13
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
14
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
15
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
16
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
17
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
18
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
19
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
20
|
(HPO:0000759)
|
Abnormal peripheral nervous system morphology |
|
|
|
|
4 / 7739
|
21
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
22
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
23
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
24
|
(HPO:0001276)
|
Hypertonia |
rare [HPO:skoehler]
|
|
|
|
317 / 7739
|
25
|
(HPO:0001508)
|
Failure to thrive |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
26
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
27
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
28
|
(HPO:0001869)
|
Deep plantar creases |
|
|
|
|
14 / 7739
|
29
|
(HPO:0002265)
|
Large fleshy ears |
|
|
|
|
5 / 7739
|
30
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
31
|
(HPO:0002708)
|
Prominent median palatal raphe |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
32
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
33
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
34
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
35
|
(HPO:0006191)
|
Deep palmar crease |
|
|
|
|
16 / 7739
|
36
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
37
|
(HPO:0007946)
|
Unilateral narrow palpebral fissure |
|
|
|
|
3 / 7739
|
38
|
(HPO:0009890)
|
High anterior hairline |
|
|
|
|
10 / 7739
|
39
|
(HPO:0011341)
|
Long upper lip |
|
|
|
|
5 / 7739
|
40
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
41
|
(HPO:0011968)
|
Feeding difficulties |
rare [HPO:skoehler]
|
|
|
|
240 / 7739
|
42
|
(HPO:0100853)
|
Hypoplastic areola |
|
|
|
|
3 / 7739
|
43
|
(OMIM)
|
Less than tenth centile |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Less than fiftieth centile |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Broad, flat philtrum |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Fleshy ears |
|
|
|
|
3 / 7739
|
47
|
(OMIM)
|
Short and narrow palpebral fissures |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Hypertelorism or telecanthus |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Broad and short nose |
|
|
|
|
4 / 7739
|
50
|
(OMIM)
|
Long upper lip with thin vermilion border |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Central palatal ridge (in some patients) |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Progressive scoliosis |
|
|
|
|
6 / 7739
|
53
|
(OMIM)
|
Fat pads anterior to calcanei |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Deep creases on palms, with pillowing in between |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Fetal finger pads |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
57
|
(OMIM)
|
Deep grooves on soles, with pillowing in between |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Fetal toe pads |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Broad, short feet |
|
|
|
|
8 / 7739
|
60
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
61
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
62
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
63
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|