1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
3
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
4
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
8
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
9
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
10
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
11
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
13
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
14
|
(HPO:0001838)
|
Rocker bottom foot |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
15
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
16
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
17
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
328 / 7739
|
18
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
19
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
22
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
23
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
24
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
25
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
26
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
27
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
28
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
29
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
30
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
31
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
32
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
33
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
34
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
35
|
(HPO:0001555)
|
Asymmetry of the thorax |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
36
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
37
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
38
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
39
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
40
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
41
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
262 / 7739
|
42
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
43
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
44
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
45
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
46
|
(HPO:0000917)
|
Superior pectus carinatum |
|
|
|
|
11 / 7739
|
47
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
48
|
(HPO:0002221)
|
Absent axillary hair |
|
|
|
|
6 / 7739
|
49
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
50
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
51
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
52
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
53
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
54
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
55
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
56
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
57
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
58
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
59
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
60
|
(HPO:0000049)
|
Shawl scrotum |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
61
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
62
|
(HPO:0000485)
|
Megalocornea |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
63
|
(HPO:0000527)
|
Long eyelashes |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
64
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
65
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
66
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
67
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
68
|
(HPO:0008551)
|
Microtia |
rare [HPO:skoehler]
|
|
|
|
98 / 7739
|
69
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|