|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
9
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0009775)
|
Amniotic constriction ring |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
14
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
15
|
(HPO:0000243)
|
Trigonocephaly |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
16
|
(HPO:0000821)
|
Hypothyroidism |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
17
|
(HPO:0000540)
|
Hypermetropia |
Very frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
18
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
21
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
24
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
25
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
26
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
27
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
28
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
29
|
(HPO:0001059)
|
Pterygium |
|
|
|
|
16 / 7739
|
|
30
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
31
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
32
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
33
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
34
|
(HPO:0002536)
|
Abnormal cortical gyration |
|
|
|
|
72 / 7739
|
|
35
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
36
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
|
37
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
38
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
39
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
40
|
(HPO:0001040)
|
Multiple pterygia |
|
|
|
|
5 / 7739
|
|
41
|
(OMIM)
|
High resolution G- and T- banding karyotype shows reciprocal translocation of distal 9p-6q |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
43
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
44
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
45
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
46
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
47
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
49
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|