1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
4
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
5
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
6
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
7
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
8
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
9
|
(HPO:0007565)
|
Multiple cafe-au-lait spots |
|
|
|
|
11 / 7739
|
10
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
12
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
14
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
15
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
16
|
(HPO:0000452)
|
Choanal stenosis |
rare [HPO:skoehler]
|
|
|
|
23 / 7739
|
17
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
18
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
19
|
(HPO:0010628)
|
Facial palsy |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
20
|
(HPO:0000232)
|
Everted lower lip vermilion |
Occasional [Orphanet]
|
|
|
|
90 / 7739
|
21
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
22
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
23
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
24
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
25
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
26
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
27
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
28
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
29
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
30
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
31
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
32
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
33
|
(OMIM)
|
Tendency to dental caries |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Facial asymmetry, mild |
|
|
|
|
5 / 7739
|
35
|
(OMIM)
|
Multiple truncal cafe-au-lait spots |
|
|
|
|
1 / 7739
|
36
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
38
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
39
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
40
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
41
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
42
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
44
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
45
|
(HPO:0000278)
|
Retrognathia |
rare [HPO:skoehler]
|
|
|
|
100 / 7739
|
46
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
47
|
(HPO:0000561)
|
Absent eyelashes |
|
|
|
|
18 / 7739
|
48
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
49
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
50
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
51
|
(HPO:0008070)
|
Sparse hair |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
52
|
(HPO:0008734)
|
Decreased testicular size |
rare [HPO:skoehler]
|
|
|
|
105 / 7739
|
53
|
(HPO:0012020)
|
Right aortic arch |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|