|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000204)
|
Cleft upper lip |
1/7 [HPO]
|
|
|
|
193 / 7739
|
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
common [HPO]
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000238)
|
Hydrocephalus |
1/3 [HPO]
|
|
|
|
278 / 7739
|
|
6
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
7
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
6/7 [HPO]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
10
|
(HPO:0000358)
|
Posteriorly rotated ears |
common [HPO]
|
|
|
|
163 / 7739
|
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
2/3 [HPO]
|
|
|
|
524 / 7739
|
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
6/7 [HPO]
|
|
|
|
290 / 7739
|
|
13
|
(HPO:0000455)
|
Broad nasal tip |
6/7 [HPO]
|
|
|
|
67 / 7739
|
|
14
|
(HPO:0000582)
|
Upslanted palpebral fissure |
common [HPO]
|
|
|
|
185 / 7739
|
|
15
|
(HPO:0000637)
|
Long palpebral fissure |
common [HPO]
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0001090)
|
Large eyes |
common [HPO]
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
18
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
2/3 [HPO]
|
|
|
|
30 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
7/7 [HPO]
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
3/5 [HPO]
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001252)
|
Muscular hypotonia |
5/5 [HPO]
|
|
|
|
990 / 7739
|
|
22
|
(HPO:0001344)
|
Absent speech |
hallmark [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
23
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
|
24
|
(HPO:0001545)
|
Anteriorly placed anus |
2/5 [HPO]
|
|
|
|
55 / 7739
|
|
25
|
(HPO:0001792)
|
Small nail |
common [HPO]
|
|
|
|
55 / 7739
|
|
26
|
(HPO:0001831)
|
Short toe |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
27
|
(HPO:0002019)
|
Constipation |
2/5 [HPO]
|
|
|
|
194 / 7739
|
|
28
|
(HPO:0002251)
|
Aganglionic megacolon |
1/7 [HPO]
|
|
|
|
78 / 7739
|
|
29
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
30
|
(HPO:0002714)
|
Downturned corners of mouth |
6/7 [HPO]
|
|
|
|
98 / 7739
|
|
31
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
7/7 [HPO]
|
|
|
|
52 / 7739
|
|
32
|
(HPO:0009882)
|
Short distal phalanx of finger |
7/7 [HPO]
|
|
|
|
125 / 7739
|
|
33
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
34
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
35
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|