Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
5
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
6
 (HPO:0001602) Laryngeal stenosis Occasional [Orphanet] 21 / 7739
7
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
8
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
9
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
10
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
11
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
12
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
13
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
14
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
15
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
16
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
17
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
18
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
19
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
20
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
22
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
23
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
24
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
25
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
26
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
27
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
28
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
29
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
30
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
31
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
32
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
33
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
34
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
35
 (HPO:0000162) Glossoptosis Occasional [Orphanet] 26 / 7739
36
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
37
 (HPO:0004306) Abnormality of the endocardium Frequent [Orphanet] 24 / 7739
38
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
39
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
40
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
41
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
42
 (HPO:0011262) Crimped helix Occasional [Orphanet] 12 / 7739
43
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
44
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
45
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
46
 (HPO:0000377) Abnormality of the pinna 111 / 7739
47
 (HPO:0001600) Abnormality of the larynx 15 / 7739
48
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
49
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
50
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
51
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
52
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
53
 (HPO:0010547) Muscle flaccidity 466 / 7739
54
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
55
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
56
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
57
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
58
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
59
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
60
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
61
 (HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
62
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
63
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
64
 (HPO:0012745) Short palpebral fissure 47 / 7739
65
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739