Symptom Information: Sort according to HPO 

1
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
2
 (HPO:0003416) Spinal canal stenosis Occasional [Orphanet] 28 / 7739
3
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
8
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
9
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
10
 (HPO:0000369) Low-set ears 372 / 7739
11
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
12
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
13
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
14
 (HPO:0005352) Severe T-cell immunodeficiency Occasional [Orphanet] 20 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
17
 (HPO:0000829) Hypoparathyroidism Very frequent [Orphanet] 22 / 7739
18
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
19
 (HPO:0000028) Cryptorchidism 347 / 7739
20
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
21
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
22
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
23
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
24
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
25
 (HPO:0002905) Hyperphosphatemia Very frequent [Orphanet] 18 / 7739
26
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
27
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
28
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
29
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
30
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
31
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
32
 (HPO:0001249) Intellectual disability 1089 / 7739
33
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
34
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
35
 (HPO:0000193) Bifid uvula 66 / 7739
36
 (HPO:0001281) Tetany 20 / 7739
37
 (HPO:0001773) Short foot Very frequent [Orphanet] 86 / 7739
38
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
39
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
40
 (HPO:0005686) Patchy osteosclerosis 3 / 7739
41
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
42
 (HPO:0008198) Congenital hypoparathyroidism 3 / 7739
43
 (HPO:0008846) Severe intrauterine growth retardation 5 / 7739
44
 (HPO:0008897) Postnatal growth retardation 113 / 7739
45
 (OMIM) Mild-moderate ventricular dilatation 1 / 7739
46
 (OMIM) Normal cell mediated immunity 1 / 7739
47
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
48
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
49
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
50
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
51
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
52
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
53
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
54
 (HPO:0004279) Short palm 323 / 7739