|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000288)
|
Abnormality of the philtrum |
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
13
|
(HPO:0002296)
|
Progressive hypotrichosis |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
16
|
(OMIM)
|
Anteverted ears |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Hypohidrosis may be present |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Onychodysplasia may be present |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Sparse, abnormal hair |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Psychomotor retardation, variable |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0040080)
|
Anteverted ears |
|
|
|
|
6 / 7739
|