|
1
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
5
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0100783)
|
Breast aplasia |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
9
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
10
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
117 / 7739
|
|
11
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
13
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
14
|
(HPO:0000974)
|
Hyperextensible skin |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0000049)
|
Shawl scrotum |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
18
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
19
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
20
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
21
|
(HPO:0000032)
|
Abnormality of male external genitalia |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000055)
|
Abnormality of female external genitalia |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
24
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
25
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
26
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
27
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
28
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
29
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
30
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
31
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
32
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
33
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
34
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
35
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
36
|
(OMIM)
|
Eyelid ectropion |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Alae nasi hypoplastic |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Nipples hypoplastic or absent |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Anomalous |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
41
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
42
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
43
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
44
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
45
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
46
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
47
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
48
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
49
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|