Symptom Information: Sort according to HPO 

1
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
2
 (HPO:0001508) Failure to thrive 454 / 7739
3
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 1/2 [HPO] 9450875 IBIS 366 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 1/2 [HPO] 12457401 IBIS 832 / 7739
5
 (HPO:0010772) Anomalous pulmonary venous return Occasional [Orphanet] 11 / 7739
6
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
7
 (HPO:0000358) Posteriorly rotated ears 1/2 [HPO] 9450875 IBIS 163 / 7739
8
 (HPO:0000369) Low-set ears 1/2 [HPO] 9450875 IBIS 372 / 7739
9
 (HPO:0000175) Cleft palate 2/2 [HPO] 349 / 7739
10
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
11
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
12
 (HPO:0001257) Spasticity 251 / 7739
13
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
14
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 2/2 [HPO] 180 / 7739
15
 (HPO:0000347) Micrognathia 2/2 [HPO] 426 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 1/2 [HPO] 12457401 IBIS 328 / 7739
17
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
18
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 1/2 [HPO] 9450875 IBIS 298 / 7739
19
 (HPO:0004482) Relative macrocephaly 44 / 7739
20
 (HPO:0009748) Large earlobe Frequent [Orphanet] 27 / 7739
21
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
22
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
23
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
24
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
25
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
26
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
29
 (HPO:0000286) Epicanthus Occasional [Orphanet] 1/2 [HPO] 12457401 IBIS 371 / 7739
30
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 1/2 [HPO] 12457401 IBIS 228 / 7739
31
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
32
 (HPO:0001263) Global developmental delay 1/2 [HPO] 12457401 IBIS 853 / 7739
33
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
34
 (HPO:0000033) Ambiguous genitalia, male 1/2 [HPO] 12457401 IBIS 9 / 7739
35
 (HPO:0000061) Ambiguous genitalia, female 1/2 [HPO] 9450875 IBIS 8 / 7739
36
 (HPO:0000169) Gingival fibromatosis 1/2 [HPO] 9450875 IBIS 14 / 7739
37
 (HPO:0000378) Cupped ear 1/2 [HPO] 12457401 IBIS 34 / 7739
38
 (HPO:0000463) Anteverted nares 305 / 7739
39
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
40
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
41
 (HPO:0001776) Bilateral talipes equinovarus 1/2 [HPO] 12457401 IBIS 8 / 7739
42
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
43
 (HPO:0003107) Abnormality of cholesterol metabolism 2/2 [HPO] 11519011 IBIS 4 / 7739
44
 (HPO:0003196) Short nose 264 / 7739
45
 (HPO:0005160) Total anomalous pulmonary venous return 1/2 [HPO] 9450875 IBIS 4 / 7739
46
 (HPO:0005281) Hypoplastic nasal bridge 1/2 [HPO] 9450875 IBIS 1 / 7739
47
 (HPO:0005789) Generalized osteosclerosis 1/2 [HPO] 9450875 IBIS 10 / 7739
48
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
49
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
50
 (HPO:0008905) Rhizomelia 1/2 [HPO] Occasional [Orphanet] 9450875 IBIS 85 / 7739
51
 (HPO:0009085) Alveolar ridge overgrowth 1/2 [HPO] 9450875 IBIS 4 / 7739
52
 (HPO:0009473) Joint contracture of the hand 1/2 [HPO] 12457401 IBIS 84 / 7739
53
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Frequent [Orphanet] 18 / 7739
54
 (OMIM) Gingival nodules 1 / 7739
55
 (OMIM) Rhizomelic shortening 12 / 7739
56
 (OMIM) Delayed psychomotor development, severe 14 / 7739
57
 (OMIM) Decreased white matter 1 / 7739
58
 (OMIM) Effaced gyral pattern 1 / 7739
59
 (OMIM) Elevated plasma desmosterol 1 / 7739
60
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
61
 (HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
62
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
63
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
64
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
65
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
67
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
68
 (HPO:0003812) Phenotypic variability 129 / 7739