Symptom Information: Sort according to HPO 

1
(HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
2
(HPO:0011968) Feeding difficulties 240 / 7739
3
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
(HPO:0000268) Dolichocephaly Frequent [Orphanet] typical [HPO] 144 / 7739
5
(HPO:0000527) Long eyelashes common [HPO] 46 / 7739
6
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
7
(HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
8
(HPO:0002046) Heat intolerance typical [HPO] 13 / 7739
9
(HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
10
(HPO:0000574) Thick eyebrow Frequent [Orphanet] typical [HPO] 96 / 7739
11
(HPO:0000431) Wide nasal bridge Frequent [Orphanet] typical [HPO] 290 / 7739
12
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
13
(HPO:0000293) Full cheeks Frequent [Orphanet] typical [HPO] 85 / 7739
14
(HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
15
(HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
16
(HPO:0000307) Pointed chin Frequent [Orphanet] typical [HPO] 45 / 7739
17
(HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
18
(HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
19
(HPO:0000490) Deeply set eye Frequent [Orphanet] typical [HPO] 131 / 7739
20
(HPO:0000365) Hearing impairment Occasional [Orphanet] 20% [HPO] 18505557 IBIS 539 / 7739
21
(HPO:0100540) Palpebral edema Frequent [Orphanet] typical [HPO] 31 / 7739
22
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] frequent [HPO] 18505557 IBIS 288 / 7739
23
(HPO:0000508) Ptosis Frequent [Orphanet] typical [HPO] 18505557 IBIS 459 / 7739
24
(HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
25
(HPO:0001250) Seizures Occasional [Orphanet] frequent [HPO] 18505557 IBIS 1245 / 7739
26
(HPO:0001004) Lymphedema Occasional [Orphanet] frequent [HPO] 18505557 IBIS 62 / 7739
27
(HPO:0000486) Strabismus Occasional [Orphanet] frequent [HPO] 576 / 7739
28
(HPO:0000286) Epicanthus Occasional [Orphanet] frequent [HPO] 371 / 7739
29
(HPO:0001176) Large hands Very frequent [Orphanet] common [HPO] 43 / 7739
30
(HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
31
(HPO:0000414) Bulbous nose typical [HPO] 63 / 7739
32
(HPO:0001263) Global developmental delay 100% [HPO] 853 / 7739
33
(HPO:0001270) Motor delay 322 / 7739
34
(HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
35
(HPO:0000076) Vesicoureteral reflux occasional [HPO] 94 / 7739
36
(HPO:0000098) Tall stature hallmark [HPO] 74 / 7739
37
(HPO:0000113) Polycystic kidney dysplasia occasional [HPO] 75 / 7739
38
(HPO:0000218) High palate frequent [HPO] 356 / 7739
39
(HPO:0000252) Microcephaly Very rare [HPO] 832 / 7739
40
(HPO:0000331) Short chin 33 / 7739
41
(HPO:0000343) Long philtrum frequent [HPO] 262 / 7739
42
(HPO:0000400) Macrotia typical [HPO] 108 / 7739
43
(HPO:0000411) Protruding ear 140 / 7739
44
(HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
45
(HPO:0000689) Dental malocclusion frequent [HPO] 114 / 7739
46
(HPO:0000710) Hyperorality common [HPO] 6 / 7739
47
(HPO:0000717) Autism common [HPO] 108 / 7739
48
(HPO:0000718) Aggressive behavior 25% [HPO] 109 / 7739
49
(HPO:0000750) Delayed speech and language development hallmark [HPO] 197 / 7739
50
(HPO:0000817) Poor eye contact common [HPO] 18505557 IBIS 26 / 7739
51
(HPO:0001265) Hyporeflexia 208 / 7739
52
(HPO:0001290) Generalized hypotonia 51 / 7739
53
(HPO:0001319) Neonatal hypotonia hallmark [HPO] 101 / 7739
54
(HPO:0001629) Ventricular septal defect occasional [HPO] 316 / 7739
55
(HPO:0001643) Patent ductus arteriosus occasional [HPO] 228 / 7739
56
(HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] common [HPO] 74 / 7739
57
(HPO:0002020) Gastroesophageal reflux frequent [HPO] 101 / 7739
58
(HPO:0002119) Ventriculomegaly occasional [HPO] 253 / 7739
59
(HPO:0002136) Broad-based gait typical [HPO] 30 / 7739
60
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
61
(HPO:0002188) Delayed CNS myelination occasional [HPO] 16 / 7739
62
(HPO:0002317) Unsteady gait typical [HPO] 45 / 7739
63
(HPO:0002342) Intellectual disability, moderate 37 / 7739
64
(HPO:0002518) Abnormality of the periventricular white matter occasional [HPO] 24 / 7739
65
(HPO:0002572) Episodic vomiting frequent [HPO] 18505557 IBIS 12 / 7739
66
(HPO:0003763) Bruxism common [HPO] 7 / 7739
67
(HPO:0004691) 2-3 toe syndactyly frequent [HPO] 18505557 IBIS 50 / 7739
68
(HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
69
(HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
70
(HPO:0011120) Concave nasal ridge 9 / 7739
71
(HPO:0100658) Cellulitis 10% [HPO] 18505557 IBIS 7 / 7739
72
(HPO:0100702) Arachnoid cyst 15% [HPO] 18505557 IBIS 15 / 7739
73
(HPO:0100703) Tongue thrusting 15% [HPO] 18505557 IBIS 4 / 7739
74
(HPO:0100704) Cortical visual impairment 6% [HPO] 28 / 7739
75
(HPO:0100797) Toenail dysplasia 3 / 7739
76
(OMIM) Normal to accelerated growth 1 / 7739
77
(OMIM) Asymmetric face 5 / 7739
78
(OMIM) Prominent brow 2 / 7739
79
(OMIM) Maxillary prognathism, mild 1 / 7739
80
(HPO:0000377) Abnormality of the pinna 111 / 7739
81
(OMIM) Feeding difficulties, neonatal 1 / 7739
82
(OMIM) Large, fleshy hands 1 / 7739
83
(OMIM) Tendency to overheat 1 / 7739
84
(OMIM) Lack of perspiration 1 / 7739
85
(OMIM) Absent or delayed speech development 1 / 7739
86
(OMIM) Compromised expressive language development, severe 1 / 7739
87
(OMIM) Mental retardation, moderate to severe 20 / 7739
88
(OMIM) Increased tolerance to pain 1 / 7739
89
(OMIM) Hyporeflexia, neonatal 1 / 7739
90
(MedDRA:10000171) Abnormal reflexes 1 / 7739
91
(MedDRA:10038254) Reflexes abnormal 1 / 7739
92
(OMIM) Inappropriate chewing behavior 1 / 7739
93
(OMIM) [DEL]Autistic features 43 / 7739
94
(HPO:0000735) Impaired social interactions 20 / 7739
95
(OMIM) Poor communication 2 / 7739
96
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
97
(HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
98
(HPO:0000272) Malar flattening typical [HPO] 277 / 7739
99
(HPO:0000336) Prominent supraorbital ridges 45 / 7739
100
(HPO:0000960) Sacral dimple typical [HPO] 29 / 7739
101
(HPO:0000966) Hypohidrosis typical [HPO] 41 / 7739
102
(HPO:0003745) Sporadic 131 / 7739
103
(HPO:0007328) Impaired pain sensation common [HPO] 10 / 7739