1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
5
|
(HPO:0100734)
|
Abnormality of vertebral epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
6
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
7
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
8
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
9
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
10
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
12
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
13
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
14
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
16
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
17
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
18
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
19
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
20
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
21
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
22
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
23
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
24
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
25
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
26
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
27
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
28
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
29
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
30
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
31
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
32
|
(HPO:0009623)
|
Proximal placement of thumb |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
33
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
34
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
35
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
36
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
37
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
38
|
(HPO:0000769)
|
Abnormality of the breast |
|
|
|
|
5 / 7739
|
39
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
40
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
41
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
42
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
43
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
44
|
(HPO:0007982)
|
Central tapetoretinal dystrophy |
|
|
|
|
1 / 7739
|
45
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
46
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
47
|
(OMIM)
|
Large areolae |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
49
|
(OMIM)
|
Prominent elbows |
|
|
|
|
1 / 7739
|
50
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
51
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
52
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
53
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
54
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
55
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|