|
1
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
3
|
(HPO:0002084)
|
Encephalocele |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0002435)
|
Meningocele |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
10
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
11
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
12
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
13
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
16
|
(HPO:0001805)
|
Thick nail |
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
18
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
19
|
(OMIM)
|
Cranium bifidum, anterior |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Nostril notching |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Tibial hypoplasia |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Preaxial polysyndactyly |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Vertical creases of plantar surface between first and second toes |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Clubbed, thickened nails of halluces (1 patient) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
28
|
(HPO:0000501)
|
Glaucoma |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
29
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
30
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
31
|
(HPO:0000545)
|
Myopia |
rare [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
32
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
33
|
(HPO:0002190)
|
Choroid plexus cyst |
|
|
|
|
5 / 7739
|
|
34
|
(HPO:0002690)
|
Large sella turcica |
|
|
|
|
12 / 7739
|
|
35
|
(HPO:0006951)
|
Retrocerebellar cyst |
|
|
|
|
6 / 7739
|
|
36
|
(HPO:0010559)
|
Vertical clivus |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
37
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
38
|
(HPO:0040075)
|
Hypopituitarism |
rare [HPO:skoehler]
|
|
|
|
32 / 7739
|