Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
2
 (HPO:0002028) Chronic diarrhea Frequent [Orphanet] 51 / 7739
3
 (HPO:0002570) Steatorrhea Frequent [Orphanet] 31 / 7739
4
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] typical [HPO] 990 / 7739
5
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 23281160 IBIS 859 / 7739
6
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
7
 (HPO:0004673) Decreased facial expression Frequent [Orphanet] typical [HPO] 5 / 7739
8
 (HPO:0000338) Hypomimic face Frequent [Orphanet] typical [HPO] 8 / 7739
9
 (HPO:0010562) Keloids Frequent [Orphanet] 11 / 7739
10
 (HPO:0000015) Bladder diverticulum Occasional [Orphanet] 23281160 IBIS 15 / 7739
11
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 1638075 IBIS 38 / 7739
12
 (HPO:0001257) Spasticity Very frequent [Orphanet] 251 / 7739
13
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
14
 (HPO:0002063) Rigidity Very frequent [Orphanet] 92 / 7739
15
 (HPO:0005344) Abnormality of the carotid arteries Frequent [Orphanet] 6 / 7739
16
 (HPO:0002619) Varicose veins Frequent [Orphanet] 11 / 7739
17
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
18
 (HPO:0000023) Inguinal hernia Very frequent [Orphanet] 15845066 IBIS 181 / 7739
19
 (HPO:0010547) Muscle flaccidity Frequent [Orphanet] 466 / 7739
20
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
21
 (HPO:0002248) Hematemesis Occasional [Orphanet] 12 / 7739
22
 (HPO:0002249) Melena Occasional [Orphanet] 11 / 7739
23
 (HPO:0002584) Intestinal bleeding Occasional [Orphanet] occasional [HPO] 16 / 7739
24
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
25
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
26
 (HPO:0000726) Dementia Very frequent [Orphanet] 131 / 7739
27
 (HPO:0001268) Mental deterioration Very frequent [Orphanet] hallmark [HPO] 88 / 7739
28
 (HPO:0002361) Psychomotor deterioration Very frequent [Orphanet] hallmark [HPO] 26 / 7739
29
 (HPO:0002376) Developmental regression Very frequent [Orphanet] 74 / 7739
30
 (HPO:0000952) Jaundice Frequent [Orphanet] 105 / 7739
31
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
32
 (HPO:0002611) Cholestatic liver disease Frequent [Orphanet] 19 / 7739
33
 (HPO:0012115) Hepatitis Frequent [Orphanet] 24 / 7739
34
 (HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
35
 (HPO:0008363) Aplasia/Hypoplasia of the tarsal bones Occasional [Orphanet] 2 / 7739
36
 (HPO:0008368) Tarsal synostosis Occasional [Orphanet] 21 / 7739
37
 (HPO:0100266) Synostosis of carpals/tarsals Occasional [Orphanet] occasional [HPO] 4 / 7739
38
 (MedDRA:10003143) Arterial aneurysm NOS Very frequent [Orphanet] 4 / 7739
39
 (HPO:0001266) Choreoathetosis Occasional [Orphanet] 57 / 7739
40
 (HPO:0002072) Chorea Occasional [Orphanet] 53 / 7739
41
 (HPO:0002305) Athetosis Occasional [Orphanet] 31 / 7739
42
 (MedDRA:10018852) Haematoma Occasional [Orphanet] 6 / 7739
43
 (HPO:0002045) Hypothermia Occasional [Orphanet] 27 / 7739
44
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
45
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
46
 (HPO:0001250) Seizures Very frequent [Orphanet] 23281160 IBIS 1245 / 7739
47
 (HPO:0002121) Absence seizures Very frequent [Orphanet] 62 / 7739
48
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 59 / 7739
49
 (HPO:0011097) Epileptic spasms Very frequent [Orphanet] 45 / 7739
50
 (HPO:0011147) Typical absence seizures Very frequent [Orphanet] 33 / 7739
51
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
52
 (Orphanet:3740) Enlargment of jaw/large jaw Frequent [Orphanet] 3 / 7739
53
 (HPO:0100777) Exostoses Frequent [Orphanet] 32 / 7739
54
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
55
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
56
 (HPO:0100545) Arterial stenosis Frequent [Orphanet] 22 / 7739
57
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 16858971 IBIS 244 / 7739
58
 (HPO:0000915) Pectus excavatum of inferior sternum Very frequent [Orphanet] hallmark [HPO] 21 / 7739
59
 (HPO:0005199) Aplasia of the abdominal wall musculature Very frequent [Orphanet] hallmark [HPO] 5 / 7739
60
 (HPO:0005247) Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] hallmark [HPO] 4 / 7739
61
 (HPO:0009023) Abdominal wall muscle weakness Very frequent [Orphanet] 12 / 7739
62
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
63
 (HPO:0000278) Retrognathia Frequent [Orphanet] 100 / 7739
64
 (HPO:0000347) Micrognathia Frequent [Orphanet] 426 / 7739
65
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 23281160 IBIS 308 / 7739
66
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
67
 (Orphanet:46720) Periarticular tissue anomaly/extraarticular calcifications Occasional [Orphanet] 2 / 7739
68
 (Orphanet:43190) [DEL]Motor deficit/trouble Very frequent [Orphanet] 6 / 7739
69
 (HPO:0002754) Osteomyelitis Occasional [Orphanet] 37 / 7739
70
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
71
 (HPO:0002757) Recurrent fractures Occasional [Orphanet] 47 / 7739
72
 (HPO:0000938) Osteopenia Occasional [Orphanet] 138 / 7739
73
 (HPO:0000939) Osteoporosis Occasional [Orphanet] 23281160 IBIS 129 / 7739
74
 (HPO:0002748) Rickets Occasional [Orphanet] 41 / 7739
75
 (HPO:0002749) Osteomalacia Occasional [Orphanet] 24 / 7739
76
 (HPO:0006462) Generalized bone demineralization Occasional [Orphanet] 11 / 7739
77
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 15845066 IBIS 206 / 7739
78
 (HPO:0002224) Woolly hair Very frequent [Orphanet] 19951494 IBIS 26 / 7739
79
 (HPO:0000973) Cutis laxa Very frequent [Orphanet] hallmark [HPO] 43 / 7739
80
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
81
 (HPO:0008067) Abnormally lax or hyperextensible skin Very frequent [Orphanet] hallmark [HPO] 3 / 7739
82
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
83
 (HPO:0002033) Poor suck Very frequent [Orphanet] 37 / 7739
84
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
85
 (HPO:0002209) Sparse scalp hair Very frequent [Orphanet] 59 / 7739
86
 (HPO:0004528) Generalized hypotrichosis Very frequent [Orphanet] 18 / 7739
87
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
88
 (HPO:0002013) Vomiting Frequent [Orphanet] 191 / 7739
89
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
90
 (HPO:0002018) Nausea Frequent [Orphanet] typical [HPO] 44 / 7739
91
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
92
 (HPO:0100255) Metaphyseal dysplasia Frequent [Orphanet] 26 / 7739
93
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
94
 (HPO:0001388) Joint laxity Very frequent [Orphanet] hallmark [HPO] 117 / 7739
95
 (HPO:0005692) Joint hyperflexibility Very frequent [Orphanet] hallmark [HPO] 20 / 7739
96
 (HPO:0001342) Cerebral hemorrhage Very frequent [Orphanet] hallmark [HPO] 24 / 7739
97
 (HPO:0002170) Intracranial hemorrhage Very frequent [Orphanet] 40 / 7739
98
 (HPO:0100309) Subdural hemorrhage Very frequent [Orphanet] 3 / 7739
99
 (HPO:0002645) Wormian bones Frequent [Orphanet] 65 / 7739
100
 (HPO:0000958) Dry skin Very frequent [Orphanet] 23281160 IBIS 152 / 7739
101
 (HPO:0001249) Intellectual disability Frequent [Orphanet] 1089 / 7739
102
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 853 / 7739
103
 (HPO:0001270) Motor delay Frequent [Orphanet] 322 / 7739
104
 (HPO:0001328) Specific learning disability Frequent [Orphanet] 114 / 7739
105
 (HPO:0003473) Fatigable weakness Very frequent [Orphanet] 39 / 7739
106
 (HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
107
 (HPO:0000248) Brachycephaly 222 / 7739
108
 (HPO:0000271) Abnormality of the face 23281160 IBIS 108 / 7739
109
 (HPO:0000308) Microretrognathia 78 / 7739
110
 (HPO:0000331) Short chin 33 / 7739
111
 (HPO:0000934) Chondrocalcinosis Occasional [Orphanet] 13 / 7739
112
 (HPO:0001582) Redundant skin 51 / 7739
113
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
114
 (HPO:0001010) Hypopigmentation of the skin 16858971 IBIS 46 / 7739
115
 (HPO:0007513) Generalized hypopigmentation 12 / 7739
116
 (HPO:0001392) Abnormality of the liver Frequent [Orphanet] 28 / 7739
117
 (HPO:0002617) Aneurysm Very frequent [Orphanet] 23281160 IBIS 34 / 7739
118
 (HPO:0003016) Metaphyseal widening 41 / 7739
119
 (HPO:0004322) Short stature 1232 / 7739
120
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
121
 (HPO:0005054) Metaphyseal spurs 4 / 7739
122
 (HPO:0007420) Spontaneous hematomas Occasional [Orphanet] 9 / 7739
123
 (HPO:0008872) Feeding difficulties in infancy Very frequent [Orphanet] 153 / 7739
124
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
125
 (OMIM) Pudgy cheeks 1 / 7739
126
 (OMIM) Metaphyseal widening with spurs 1 / 7739
127
 (OMIM) Steely, kinky, sparse hair 23281160 IBIS 1 / 7739
128
 (OMIM) Twisted and partial breaks on magnification 1 / 7739
129
 (OMIM) Neurologic degeneration 1 / 7739
130
 (OMIM) Low copper and ceruloplasmin 19951494 IBIS 1 / 7739
131
 (OMIM) Hypomelanosis 25228517 IBIS 2 / 7739
132
 (HPO:0002097) Emphysema 23281160 IBIS 40 / 7739
133
 (HPO:0012541) Cephalohematoma 23281160 IBIS 1 / 7739