1
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0004760)
|
Congenital septal defect |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
4
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
8
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
10
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
12
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
13
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
16
|
(HPO:0000340)
|
Sloping forehead |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
17
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
18
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
19
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
20
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
22
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
23
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
25
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
26
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
27
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
28
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
29
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
30
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
31
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
32
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
33
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
34
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
35
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
36
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
37
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
38
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
39
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
40
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
41
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
42
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
43
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
44
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
45
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
46
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
47
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
48
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
49
|
(HPO:0005248)
|
Intrahepatic biliary atresia |
|
|
|
|
6 / 7739
|
50
|
(HPO:0007665)
|
Curly eyelashes |
|
|
|
|
6 / 7739
|
51
|
(HPO:0008407)
|
Hyperconvex thumb nails |
|
|
|
|
1 / 7739
|
52
|
(HPO:0008425)
|
Cuboid-shaped thoracolumbar vertebral bodies |
|
|
|
|
1 / 7739
|
53
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
54
|
(OMIM)
|
Long curly eyelashes |
|
|
|
|
3 / 7739
|
55
|
(OMIM)
|
Light blue irides |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Irregular ridges on incisors |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Situs abdominalis inversus |
|
|
|
|
1 / 7739
|
58
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
59
|
(OMIM)
|
Calyceal dilation |
|
|
|
|
1 / 7739
|
60
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
61
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
62
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
63
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
64
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|