|
1
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
|
2
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0002032)
|
Esophageal atresia |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
6
|
(HPO:0002043)
|
Esophageal stricture |
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0010450)
|
Esophageal stenosis |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0000185)
|
Cleft soft palate |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
11
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
|
13
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
15
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
|
16
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
17
|
(HPO:0100716)
|
Self-injurious behavior |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0000319)
|
Smooth philtrum |
rare [HPO:skoehler]
|
|
|
|
72 / 7739
|
|
21
|
(HPO:0000325)
|
Triangular face |
rare [HPO:skoehler]
|
|
|
|
91 / 7739
|
|
22
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
23
|
(HPO:0000490)
|
Deeply set eye |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
24
|
(HPO:0000494)
|
Downslanted palpebral fissures |
rare [HPO:skoehler]
|
|
|
|
328 / 7739
|
|
25
|
(HPO:0000659)
|
Peters anomaly |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
27
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
28
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
29
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
rare [HPO:skoehler]
|
|
|
|
77 / 7739
|
|
30
|
(HPO:0011304)
|
Broad thumb |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
31
|
(OMIM)
|
Dolicocephaly (in some patients) |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Hypotonic facies (rare) |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
34
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
35
|
(OMIM)
|
Large anteverted ears (rare) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Rotational tongue movements (rare) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Megacalicosis, unilateral (rare) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Brachydactyly, mild |
|
|
|
|
5 / 7739
|
|
39
|
(OMIM)
|
Short second fingers bilaterally (rare) |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
41
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
42
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
|
43
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
44
|
(OMIM)
|
Cortical dysplasia, focal (1 patient) |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
46
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
47
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
48
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
49
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|