|
1
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
4
|
(HPO:0009738)
|
Abnormality of the antihelix |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0008388)
|
Abnormality of the toenails |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
15
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
17
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
18
|
(HPO:0000221)
|
Furrowed tongue |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
20
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
21
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
22
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
23
|
(HPO:0009465)
|
Ulnar deviation of finger |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
24
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
25
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
26
|
(HPO:0011300)
|
Broad fingertip |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0100759)
|
Clubbing of fingers |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
28
|
(HPO:0000601)
|
Hypotelorism |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
29
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
30
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
31
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
32
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
33
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
34
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
35
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
36
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
37
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
38
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
|
39
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
40
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
41
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
42
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
43
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
44
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
45
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
46
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
47
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
48
|
(HPO:0003992)
|
Slender ulna |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
50
|
(HPO:0004405)
|
Prominent nipples |
|
|
|
|
2 / 7739
|
|
51
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
|
52
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
53
|
(HPO:0008593)
|
Prominent antitragus |
|
|
|
|
2 / 7739
|
|
54
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
55
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
56
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
57
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
58
|
(OMIM)
|
Height less than 5th percentile |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Weight less than 5th percentile |
|
|
|
|
2 / 7739
|
|
60
|
(OMIM)
|
Mild maxillary hypoplasia |
|
|
|
|
2 / 7739
|
|
61
|
(OMIM)
|
Pouty lower lip |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Thin limbs |
|
|
|
|
3 / 7739
|
|
63
|
(OMIM)
|
Slender radii |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Finger joint laxity |
|
|
|
|
2 / 7739
|
|
65
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
66
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
67
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
68
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
69
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
70
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
71
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|