|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
|
3
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
11
|
(OMIM)
|
Pstnatal short stature |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Appearance suggestive of Down syndrome |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Long, broad, and smooth philtrum |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Idiopathic chondrolysis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal high-resolution karyotype |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
17
|
(HPO:0000164)
|
Abnormality of the teeth |
rare [HPO:skoehler]
|
|
|
|
291 / 7739
|
|
18
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
19
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
20
|
(HPO:0000270)
|
Delayed cranial suture closure |
rare [HPO:skoehler]
|
|
|
|
33 / 7739
|
|
21
|
(HPO:0000303)
|
Mandibular prognathia |
rare [HPO:skoehler]
|
|
|
|
179 / 7739
|
|
22
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
23
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
24
|
(HPO:0000358)
|
Posteriorly rotated ears |
rare [HPO:skoehler]
|
|
|
|
163 / 7739
|
|
25
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
26
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
27
|
(HPO:0000494)
|
Downslanted palpebral fissures |
rare [HPO:skoehler]
|
|
|
|
328 / 7739
|
|
28
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
29
|
(HPO:0000582)
|
Upslanted palpebral fissure |
rare [HPO:skoehler]
|
|
|
|
185 / 7739
|
|
30
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
31
|
(HPO:0001182)
|
Tapered finger |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
32
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
33
|
(HPO:0001701)
|
Pericarditis |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
34
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
35
|
(HPO:0002209)
|
Sparse scalp hair |
rare [HPO:skoehler]
|
|
|
|
59 / 7739
|
|
36
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
37
|
(HPO:0004484)
|
Craniofacial asymmetry |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
39
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
40
|
(HPO:0008404)
|
Nail dystrophy |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
41
|
(HPO:0008551)
|
Microtia |
rare [HPO:skoehler]
|
|
|
|
98 / 7739
|
|
42
|
(HPO:0011229)
|
Broad eyebrow |
|
|
|
|
9 / 7739
|
|
43
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
44
|
(HPO:0012385)
|
Camptodactyly |
rare [HPO:skoehler]
|
|
|
|
113 / 7739
|