|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0009380)
|
Aplasia of the fingers |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
4
|
(HPO:0009756)
|
Popliteal pterygium |
Frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0000046)
|
Scrotal hypoplasia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0100267)
|
Lip pit |
Frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
12
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0000048)
|
Bifid scrotum |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
14
|
(HPO:0009755)
|
Ankyloblepharon |
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
16
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
17
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
18
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
19
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
20
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
21
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
|
22
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
|
23
|
(HPO:0000196)
|
Lower lip pit |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
25
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
26
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
27
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
28
|
(HPO:0008726)
|
Hypoplasia of the vagina |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0009754)
|
Fibrous syngnathia |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009757)
|
Intercrural pterygium |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0009758)
|
Pyramidal skinfold extending from the base to the top of the nails |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Congenital ankyloblepharon filiforme |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Lower lip cysts |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Variable skin syndactyly fingers and toes |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Pyramidal skinfold of halluces |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Unusual distribution of pubic hair with extension to inner aspect of thigh |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
38
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
39
|
(HPO:0000315)
|
Abnormality of the orbital region |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
40
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
41
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
42
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|