Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
2
 (HPO:0002028) Chronic diarrhea 51 / 7739
3
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0001302) Pachygyria 60 / 7739
8
 (HPO:0001339) Lissencephaly 30 / 7739
9
 (HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
10
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
11
 (HPO:0001257) Spasticity 251 / 7739
12
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
13
 (HPO:0012092) Abnormality of exocrine pancreas physiology Occasional [Orphanet] 9 / 7739
14
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
15
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
16
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
17
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
18
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000062) Ambiguous genitalia Very frequent [Orphanet] 74 / 7739
21
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
22
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
23
 (HPO:0001328) Specific learning disability 114 / 7739
24
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
25
 (HPO:0000218) High palate 356 / 7739
26
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
27
 (HPO:0000260) Wide anterior fontanel 55 / 7739
28
 (HPO:0000343) Long philtrum 262 / 7739
29
 (HPO:0000348) High forehead 157 / 7739
30
 (HPO:0000369) Low-set ears 372 / 7739
31
 (HPO:0000426) Prominent nasal bridge 121 / 7739
32
 (HPO:0000431) Wide nasal bridge 290 / 7739
33
 (HPO:0001347) Hyperreflexia 363 / 7739
34
 (HPO:0002014) Diarrhea 225 / 7739
35
 (HPO:0002171) Gliosis 48 / 7739
36
 (HPO:0008734) Decreased testicular size 105 / 7739
37
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
38
 (HPO:0009921) Duane anomaly 9 / 7739
39
 (HPO:0011341) Long upper lip 5 / 7739
40
 (HPO:0011344) Severe global developmental delay 46 / 7739
41
 (OMIM) Thin optic nerves 2 / 7739
42
 (OMIM) Pinched nasal alae 1 / 7739
43
 (HPO:0011968) Feeding difficulties 240 / 7739
44
 (OMIM) Underdeveloped scrotal folds 1 / 7739
45
 (OMIM) No development 1 / 7739
46
 (OMIM) Seizures, intractable, neonatal 1 / 7739
47
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
48
 (HPO:0010547) Muscle flaccidity 466 / 7739
49
 (OMIM) Spasticity, distal 1 / 7739
50
 (OMIM) Learning difficulties in affected females 1 / 7739
51
 (OMIM) Lissencephaly, posterior to anterior gradient 1 / 7739
52
 (OMIM) Anterior pachygyria and posterior agyria 1 / 7739
53
 (OMIM) Moderately thickened cortex 1 / 7739
54
 (OMIM) Dysplastic basal ganglia 1 / 7739
55
 (OMIM) Neuronal migration defect 4 / 7739
56
 (OMIM) Gliosis of the white matter 1 / 7739
57
 (OMIM) Hypothalamic dysfunction 4 / 7739
58
 (OMIM) Impaired temperature regulation 1 / 7739
59
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
62
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
63
 (HPO:0001417) X-linked inheritance 173 / 7739