Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
3
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
4
 (HPO:0010808) Protruding tongue 28 / 7739
5
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
6
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
7
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
8
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
9
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
10
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
11
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
12
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
13
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
14
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
15
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
16
 (HPO:0011902) Abnormal hemoglobin Frequent [Orphanet] 18 / 7739
17
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
18
 (HPO:0000126) Hydronephrosis 119 / 7739
19
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
20
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
21
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
22
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
23
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
24
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
25
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
26
 (HPO:0001250) Seizures Frequent [Orphanet] frequent [HPO] 1245 / 7739
27
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
28
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
29
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
30
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
31
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
32
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
33
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
34
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
35
 (HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
36
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
37
 (HPO:0000028) Cryptorchidism 347 / 7739
38
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
39
 (HPO:0000037) Male pseudohermaphroditism Very frequent [Orphanet] 25 / 7739
40
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
41
 (HPO:0000062) Ambiguous genitalia Very frequent [Orphanet] 74 / 7739
42
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
43
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
44
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
45
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
46
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
47
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
48
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
49
 (HPO:0001249) Intellectual disability 1089 / 7739
50
 (HPO:0001263) Global developmental delay 853 / 7739
51
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
52
 (HPO:0000047) Hypospadias 250 / 7739
53
 (HPO:0000049) Shawl scrotum 31 / 7739
54
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
55
 (HPO:0000104) Renal agenesis 68 / 7739
56
 (HPO:0000272) Malar flattening 277 / 7739
57
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
58
 (HPO:0000369) Low-set ears 372 / 7739
59
 (HPO:0001182) Tapered finger 93 / 7739
60
 (HPO:0001257) Spasticity 251 / 7739
61
 (HPO:0001537) Umbilical hernia 206 / 7739
62
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
63
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
64
 (HPO:0002059) Cerebral atrophy 171 / 7739
65
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
66
 (HPO:0002580) Volvulus Occasional [Orphanet] 10 / 7739
67
 (HPO:0002673) Coxa valga 57 / 7739
68
 (HPO:0002688) Absent frontal sinuses 12 / 7739
69
 (HPO:0002751) Kyphoscoliosis 131 / 7739
70
 (HPO:0002937) Hemivertebrae 41 / 7739
71
 (HPO:0003196) Short nose 264 / 7739
72
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
73
 (HPO:0005280) Depressed nasal bridge 381 / 7739
74
 (HPO:0008551) Microtia 98 / 7739
75
 (HPO:0008897) Postnatal growth retardation 113 / 7739
76
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
77
 (HPO:0009466) Radial deviation of finger 101 / 7739
78
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
79
 (HPO:0011682) Perimembranous ventricular septal defect 6 / 7739
80
 (HPO:0011907) Reduced alpha/beta synthesis ratio 6 / 7739
81
 (OMIM) Small triangular nose 1 / 7739
82
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
83
 (MedDRA:10058668) Clinodactyly 91 / 7739
84
 (OMIM) Expressive speech absent 1 / 7739
85
 (OMIM) Spasticity later 1 / 7739
86
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
87
 (OMIM) Mild hypochromic microcytic anemia 1 / 7739
88
 (OMIM) Mild form of hemoglobin H (Hb H) disease 1 / 7739
89
 (OMIM) Hb H erythrocyte inclusions 1 / 7739
90
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
91
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
92
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
93
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
94
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
95
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
96
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
97
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
98
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
99
 (HPO:0003812) Phenotypic variability 129 / 7739
100
 (HPO:0030084) Clinodactyly 90 / 7739