Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
2
 (HPO:0001508) Failure to thrive 454 / 7739
3
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
4
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
5
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
8
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
9
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
10
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
11
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
12
 (HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
13
 (HPO:0012092) Abnormality of exocrine pancreas physiology Very frequent [Orphanet] 9 / 7739
14
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
15
 (HPO:0000143) Rectovaginal fistula 18 / 7739
16
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
17
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
18
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
19
 (HPO:0009933) Narrow naris Occasional [Orphanet] 16 / 7739
20
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
21
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
22
 (HPO:0000126) Hydronephrosis 119 / 7739
23
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
24
 (HPO:0003075) Hypoproteinemia Frequent [Orphanet] 27 / 7739
25
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
26
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
27
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
28
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
29
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
30
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
31
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
32
 (HPO:0001249) Intellectual disability 1089 / 7739
33
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
34
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
35
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
36
 (HPO:0000028) Cryptorchidism 347 / 7739
37
 (HPO:0000057) Clitoromegaly 30 / 7739
38
 (HPO:0000444) Convex nasal ridge 87 / 7739
39
 (HPO:0000486) Strabismus 576 / 7739
40
 (HPO:0000821) Hypothyroidism 141 / 7739
41
 (HPO:0000954) Single transverse palmar crease 162 / 7739
42
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
43
 (HPO:0001092) Absent lacrimal punctum 6 / 7739
44
 (HPO:0001153) Septate vagina 6 / 7739
45
 (HPO:0001362) Calvarial skull defect 22 / 7739
46
 (HPO:0001388) Joint laxity 117 / 7739
47
 (HPO:0001396) Cholestasis rare [HPO:skoehler] 136 / 7739
48
 (HPO:0002611) Cholestatic liver disease 19 / 7739
49
 (HPO:0001399) Hepatic failure rare [HPO:skoehler] 80 / 7739
50
 (HPO:0001518) Small for gestational age 107 / 7739
51
 (HPO:0001545) Anteriorly placed anus 55 / 7739
52
 (HPO:0001597) Abnormality of the nail 115 / 7739
53
 (HPO:0001629) Ventricular septal defect 316 / 7739
54
 (HPO:0001631) Atria septal defect 274 / 7739
55
 (HPO:0001644) Dilated cardiomyopathy rare [HPO:skoehler] 141 / 7739
56
 (HPO:0001696) Situs inversus totalis 44 / 7739
57
 (HPO:0002209) Sparse scalp hair 59 / 7739
58
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
59
 (HPO:0002253) Colonic diverticula 12 / 7739
60
 (HPO:0002286) Fair hair 20 / 7739
61
 (HPO:0002557) Hypoplastic nipples 33 / 7739
62
 (HPO:0002901) Hypocalcemia 56 / 7739
63
 (HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 9 / 7739
64
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
65
 (HPO:0005498) Midline skin dimples over anterior/posterior fontanelles 1 / 7739
66
 (HPO:0006334) Hypoplasia of the primary teeth 2 / 7739
67
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
68
 (HPO:0007385) Aplasia cutis congenita of scalp 10 / 7739
69
 (HPO:0008716) Urethrovaginal fistula 1 / 7739
70
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
71
 (HPO:0012050) Anasarca 4 / 7739
72
 (OMIM) Cystic dilatation of cochlea and vestibulum 1 / 7739
73
 (OMIM) Cutaneolacrimal fistulae 1 / 7739
74
 (OMIM) Absent areolae 1 / 7739
75
 (OMIM) Giant cell hepatocytes (1 patient) 2 / 7739
76
 (MedDRA:10016642) Fibrosis 9 / 7739
77
 (OMIM) Double vagina 1 / 7739
78
 (OMIM) Calicectasis 1 / 7739
79
 (OMIM) Blonde, sparse scalp hair 1 / 7739
80
 (OMIM) Frontal upsweep 1 / 7739
81
 (OMIM) Extension of lateral hairline onto forehead 1 / 7739
82
 (OMIM) 'Unruly' scalp hair 1 / 7739
83
 (HPO:0000969) Edema Occasional [Orphanet] 117 / 7739
84
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
85
 (HPO:0010547) Muscle flaccidity 466 / 7739
86
 (HPO:0008191) Thyroid agenesis 11 / 7739
87
 (OMIM) Low total serum protein 1 / 7739
88
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
89
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
90
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
91
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
92
 (HPO:0003819) Death in childhood 42 / 7739