Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive 17357070 IBIS 454 / 7739
2
 (HPO:0011968) Feeding difficulties 240 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 17357070 IBIS 832 / 7739
4
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0002020) Gastroesophageal reflux 17357070 IBIS 101 / 7739
7
 (HPO:0000717) Autism Very frequent [Orphanet] 17357070 IBIS 108 / 7739
8
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
10
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 17357070 IBIS 644 / 7739
11
 (HPO:0000347) Micrognathia 17357070 IBIS 426 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 17357070 IBIS 328 / 7739
13
 (HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
14
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
15
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 17357070 IBIS 188 / 7739
16
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
17
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
18
 (HPO:0000325) Triangular face Frequent [Orphanet] 17357070 IBIS 91 / 7739
19
 (HPO:0002650) Scoliosis Frequent [Orphanet] 17357070 IBIS 705 / 7739
20
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 17357070 IBIS 539 / 7739
21
 (HPO:0000752) Hyperactivity Very frequent [Orphanet] 140 / 7739
22
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
23
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 17357070 IBIS 99 / 7739
24
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
25
 (HPO:0010535) Sleep apnea 17357070 IBIS 24 / 7739
26
 (HPO:0000337) Broad forehead Frequent [Orphanet] 17357070 IBIS 116 / 7739
27
 (HPO:0004322) Short stature Occasional [Orphanet] 17357070 IBIS 1232 / 7739
28
 (HPO:0002357) Dysphasia 17357070 IBIS 33 / 7739
29
 (HPO:0010529) Echolalia 17357070 IBIS 20 / 7739
30
 (HPO:0001263) Global developmental delay 17357070 IBIS 853 / 7739
31
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
32
 (HPO:0000218) High palate 356 / 7739
33
 (HPO:0000243) Trigonocephaly 40 / 7739
34
 (HPO:0000303) Mandibular prognathia 17357070 IBIS 179 / 7739
35
 (HPO:0000319) Smooth philtrum 72 / 7739
36
 (HPO:0000678) Dental crowding 65 / 7739
37
 (HPO:0000733) Stereotypy 17357070 IBIS 58 / 7739
38
 (HPO:0000817) Poor eye contact 17357070 IBIS 26 / 7739
39
 (HPO:0000821) Hypothyroidism rare [HPO:skoehler] 141 / 7739
40
 (HPO:0001250) Seizures 17357070 IBIS 1245 / 7739
41
 (HPO:0001256) Intellectual disability, mild 141 / 7739
42
 (HPO:0001290) Generalized hypotonia 17357070 IBIS 51 / 7739
43
 (HPO:0001518) Small for gestational age 17357070 IBIS 107 / 7739
44
 (HPO:0001626) Abnormality of the cardiovascular system 17357070 IBIS 73 / 7739
45
 (HPO:0001655) Patent foramen ovale 31 / 7739
46
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
47
 (HPO:0002463) Language impairment 17357070 IBIS 15 / 7739
48
 (HPO:0002474) Expressive language delay 17357070 IBIS 8 / 7739
49
 (HPO:0003146) Hypocholesterolemia 17357070 IBIS 9 / 7739
50
 (HPO:0005274) Prominent nasal tip 17357070 IBIS 6 / 7739
51
 (HPO:0008872) Feeding difficulties in infancy 17357070 IBIS 153 / 7739
52
 (HPO:0010863) Receptive language delay 17357070 IBIS 2 / 7739
53
 (HPO:0012210) Abnormal renal morphology 17357070 IBIS 18 / 7739
54
 (HPO:0012448) Delayed myelination 51 / 7739
55
 (HPO:0200136) Oral-pharyngeal dysphagia 1 / 7739
56
 (OMIM) Long nasal tip 1 / 7739
57
 (OMIM) Structural cardiovascular abnormalities 1 / 7739
58
 (HPO:0001631) Atria septal defect 274 / 7739
59
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
60
 (HPO:0010547) Muscle flaccidity 466 / 7739
61
 (HPO:0000750) Delayed speech and language development 197 / 7739
62
 (OMIM) No overt seizures 1 / 7739
63
 (OMIM) [DEL]Autistic features 43 / 7739
64
 (HPO:0008191) Thyroid agenesis 11 / 7739
65
 (OMIM) Decreased cholesterol (less common) 1 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
67
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
68
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
69
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
70
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
71
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
72
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
73
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
74
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
75
 (HPO:0003745) Sporadic 131 / 7739
76
 (HPO:0003812) Phenotypic variability 129 / 7739