Symptom Information: Sort according to HPO 

1
 (HPO:0011968) Feeding difficulties 240 / 7739
2
 (HPO:0100495) Mastocytosis Very frequent [Orphanet] 14 / 7739
3
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
4
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
7
 (HPO:0001324) Muscle weakness 859 / 7739
8
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
11
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
14
 (HPO:0000218) High palate 356 / 7739
15
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
16
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
17
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
18
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
19
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
20
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
21
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
22
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
23
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
24
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
25
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
26
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
27
 (HPO:0100559) Lower limb asymmetry Occasional [Orphanet] 30 / 7739
28
 (HPO:0008551) Microtia 98 / 7739
29
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
30
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (HPO:0000336) Prominent supraorbital ridges Occasional [Orphanet] 45 / 7739
33
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
34
 (HPO:0001249) Intellectual disability 1089 / 7739
35
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
36
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
37
 (OMIM) Hearing loss, conductive or mixed 2 / 7739
38
 (OMIM) Cutaneous mastocytosis 3 / 7739
39
 (HPO:0011971) Dermatographic urticaria 2 / 7739
40
 (OMIM) Mast cell infiltration 1 / 7739
41
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
42
 (HPO:0010547) Muscle flaccidity 466 / 7739
43
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
44
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
45
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
46
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
47
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
48
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
49
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
50
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
51
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
52
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
53
 (HPO:0200151) Cutaneous mastocytosis 2 / 7739