1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
2
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
5
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
6
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
7
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
|
|
|
|
10 / 7739
|
8
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
9
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
10
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
11
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
12
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
13
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
15
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
16
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
17
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
18
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
19
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
20
|
(HPO:0007500)
|
Decreased number of sweat glands |
|
|
|
|
6 / 7739
|
21
|
(HPO:0001092)
|
Absent lacrimal punctum |
|
|
|
|
6 / 7739
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
23
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
24
|
(HPO:0001805)
|
Thick nail |
|
|
|
|
96 / 7739
|
25
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
26
|
(HPO:0002235)
|
Pili canaliculi |
|
|
|
|
4 / 7739
|
27
|
(HPO:0002287)
|
Progressive alopecia |
|
|
|
|
1 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
30
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
31
|
(HPO:0200141)
|
Small, conical teeth |
|
|
|
|
2 / 7739
|
32
|
(OMIM)
|
Atretic ear canals |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Absent lateral one-third of eyebrow |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Decreased number of sweat pores |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Sparse, fine hair |
|
|
|
|
4 / 7739
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
37
|
(HPO:0007476)
|
Anhidrotic ectodermal dysplasia |
|
|
|
|
4 / 7739
|