|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [Orphanet]
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
8
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
14
|
(HPO:0000307)
|
Pointed chin |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
19
|
(HPO:0000340)
|
Sloping forehead |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
20
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
21
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
23
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
24
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
25
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
26
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
28
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
29
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
30
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
31
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
32
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
33
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
34
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
35
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
36
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
37
|
(HPO:0000495)
|
Recurrent corneal erosions |
|
|
|
|
20 / 7739
|
|
38
|
(HPO:0100583)
|
Corneal perforation |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0200020)
|
Corneal erosion |
|
|
|
|
12 / 7739
|
|
40
|
(OMIM)
|
High-arched, dense eyebrows |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Curled eyelashes |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
46
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
47
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
48
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
49
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
50
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
51
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
52
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
53
|
(HPO:0012804)
|
Corneal ulceration |
|
|
|
|
6 / 7739
|
|
54
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
55
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|