Symptom Information: Sort according to HPO 

1
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
4
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
5
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
6
 (HPO:0000023) Inguinal hernia 181 / 7739
7
 (HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
8
 (HPO:0100729) Large face Occasional [Orphanet] 19 / 7739
9
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
10
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
11
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
13
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
14
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
15
 (HPO:0000069) Abnormality of the ureter Frequent [Orphanet] 47 / 7739
16
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
17
 (HPO:0001792) Small nail 55 / 7739
18
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
19
 (HPO:0001999) Abnormal facial shape 169 / 7739
20
 (HPO:0002023) Anal atresia 135 / 7739
21
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
22
 (OMIM) Minor dysmorphic facies 1 / 7739
23
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
24
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
25
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
26
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739