|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
7
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
8
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
12
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
13
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
16
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
17
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
18
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
20
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
21
|
(HPO:0000248)
|
Brachycephaly |
rare [HPO:skoehler]
|
|
|
|
222 / 7739
|
|
22
|
(HPO:0000268)
|
Dolichocephaly |
rare [HPO:skoehler]
|
|
|
|
144 / 7739
|
|
23
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
24
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
25
|
(HPO:0000369)
|
Low-set ears |
rare [HPO:skoehler]
|
|
|
|
372 / 7739
|
|
26
|
(HPO:0000400)
|
Macrotia |
rare [HPO:skoehler]
|
|
|
|
108 / 7739
|
|
27
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
28
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
29
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
30
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
31
|
(HPO:0000545)
|
Myopia |
rare [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
32
|
(HPO:0000717)
|
Autism |
rare [HPO:skoehler]
|
|
|
|
108 / 7739
|
|
33
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
34
|
(HPO:0001357)
|
Plagiocephaly |
rare [HPO:skoehler]
|
|
|
|
106 / 7739
|
|
35
|
(HPO:0002119)
|
Ventriculomegaly |
rare [HPO:skoehler]
|
|
|
|
253 / 7739
|
|
36
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
37
|
(HPO:0006988)
|
Alobar holoprosencephaly |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
|
39
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
40
|
(OMIM)
|
Postnatal overgrowth |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Prominent or broad forehead |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Antimongoloid slant (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(Orphanet:9200)
|
Protruding lips |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Hypotonicity |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Major developmental delay |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
47
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|