Symptom Information: Sort according to HPO 

1
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
2
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
3
 (HPO:0002028) Chronic diarrhea 51 / 7739
4
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
5
 (HPO:0000992) Cutaneous photosensitivity Occasional [Orphanet] 75 / 7739
6
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
7
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
8
 (HPO:0000369) Low-set ears 372 / 7739
9
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
10
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
11
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
12
 (HPO:0000185) Cleft soft palate 18 / 7739
13
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
14
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
15
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
16
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
17
 (HPO:0002719) Recurrent infections 107 / 7739
18
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
19
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
20
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
21
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
22
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
23
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
24
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
25
 (HPO:0001874) Abnormality of neutrophils Occasional [Orphanet] 47 / 7739
26
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
27
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
28
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
29
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
30
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
31
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
32
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
33
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] 46 / 7739
34
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
35
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
36
 (HPO:0011968) Feeding difficulties 240 / 7739
37
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
38
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
39
 (HPO:0001840) Metatarsus adductus Occasional [Orphanet] 49 / 7739
40
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
41
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
42
 (HPO:0000960) Sacral dimple 29 / 7739
43
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
44
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
45
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
46
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
47
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
48
 (HPO:0000294) Low anterior hairline Frequent [Orphanet] 52 / 7739
49
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
50
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
51
 (HPO:0000347) Micrognathia 426 / 7739
52
 (HPO:0002099) Asthma Occasional [Orphanet] 62 / 7739
53
 (HPO:0000829) Hypoparathyroidism Occasional [Orphanet] 22 / 7739
54
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
55
 (HPO:0000218) High palate 356 / 7739
56
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
57
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
58
 (HPO:0000028) Cryptorchidism 347 / 7739
59
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
60
 (HPO:0005338) Sparse lateral eyebrow Frequent [Orphanet] 21 / 7739
61
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
62
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
63
 (HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
64
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
65
 (HPO:0001047) Atopic dermatitis 20 / 7739
66
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
67
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
68
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
69
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
70
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
71
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
72
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
73
 (HPO:0002209) Sparse scalp hair 59 / 7739
74
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
75
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
76
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
77
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
78
 (HPO:0001249) Intellectual disability 10% [HPO:probinson] 1089 / 7739
79
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
80
 (HPO:0000023) Inguinal hernia 181 / 7739
81
 (HPO:0000220) Velopharyngeal insufficiency 10 / 7739
82
 (HPO:0000274) Small face 18 / 7739
83
 (HPO:0000324) Facial asymmetry 57 / 7739
84
 (HPO:0000348) High forehead 157 / 7739
85
 (HPO:0000388) Otitis media 28 / 7739
86
 (HPO:0000431) Wide nasal bridge 290 / 7739
87
 (HPO:0000455) Broad nasal tip 67 / 7739
88
 (HPO:0000485) Megalocornea 26 / 7739
89
 (HPO:0000540) Hypermetropia 99 / 7739
90
 (HPO:0000547) Tapetoretinal degeneration 11 / 7739
91
 (HPO:0000568) Microphthalmia 183 / 7739
92
 (HPO:0000612) Iris coloboma 116 / 7739
93
 (HPO:0000670) Carious teeth 145 / 7739
94
 (HPO:0000736) Short attention span 16 / 7739
95
 (HPO:0000750) Delayed speech and language development 197 / 7739
96
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
97
 (HPO:0001252) Muscular hypotonia 990 / 7739
98
 (HPO:0001324) Muscle weakness 859 / 7739
99
 (HPO:0001620) High pitched voice 32 / 7739
100
 (HPO:0001763) Pes planus 176 / 7739
101
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
102
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
103
 (HPO:0001915) Aplastic anemia 16 / 7739
104
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
105
 (HPO:0002572) Episodic vomiting 12 / 7739
106
 (HPO:0002720) IgA deficiency 33 / 7739
107
 (HPO:0003006) Neuroblastoma 16 / 7739
108
 (HPO:0004315) IgG deficiency 38 / 7739
109
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
110
 (HPO:0006721) Acute lymphoblastic leukemia 7 / 7739
111
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
112
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
113
 (HPO:0008897) Postnatal growth retardation 113 / 7739
114
 (OMIM) Average birth length 44cm 1 / 7739
115
 (OMIM) Average birth weight 2.3kg 1 / 7739
116
 (OMIM) Average birth head circumference 30.6cm 1 / 7739
117
 (OMIM) Elongation of face with age 1 / 7739
118
 (OMIM) High, sloping forehead 2 / 7739
119
 (HPO:0000377) Abnormality of the pinna 111 / 7739
120
 (OMIM) Two-three toe syndactyly 1 / 7739
121
 (HPO:0001051) Seborrheic dermatitis 25 / 7739
122
 (OMIM) Mental retardation, moderate to severe 20 / 7739
123
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
124
 (HPO:0010547) Muscle flaccidity 466 / 7739
125
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
126
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
127
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
128
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
129
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
130
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
131
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
132
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
133
 (HPO:0004377) Hematological neoplasm Occasional [Orphanet] 12 / 7739
134
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
135
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
136
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
137
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
138
 (HPO:0012745) Short palpebral fissure 47 / 7739