1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
7
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
8
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
13
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
14
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
15
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
16
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
17
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
18
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
19
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
20
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
21
|
(HPO:0100874)
|
Thick hair |
|
|
|
|
7 / 7739
|
22
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
23
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
24
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
25
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
26
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
27
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
28
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
29
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
30
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
31
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
32
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
33
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
34
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
35
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
36
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
37
|
(HPO:0000294)
|
Low anterior hairline |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
38
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
39
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
40
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
41
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
42
|
(HPO:0005257)
|
Thoracic hypoplasia |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
43
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
44
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
45
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
46
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
47
|
(HPO:0000488)
|
Retinopathy |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
48
|
(HPO:0000243)
|
Trigonocephaly |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
49
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
50
|
(HPO:0002558)
|
Supernumerary nipple |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
51
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
52
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
53
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
54
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
55
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
56
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
57
|
(HPO:0000187)
|
Broad alveolar ridges |
|
|
|
|
14 / 7739
|
58
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
59
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
60
|
(HPO:0000329)
|
Facial hemangioma |
|
|
|
|
5 / 7739
|
61
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
62
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
63
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
64
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
65
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
66
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
67
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
68
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
69
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
70
|
(HPO:0001773)
|
Short foot |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
71
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
72
|
(HPO:0001845)
|
Overlapping toe |
|
|
|
|
18 / 7739
|
73
|
(HPO:0001869)
|
Deep plantar creases |
|
|
|
|
14 / 7739
|
74
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
75
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
76
|
(HPO:0003049)
|
Ulnar deviation of the wrist |
|
|
|
|
6 / 7739
|
77
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
78
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
79
|
(HPO:0005026)
|
Mesomelic/rhizomelic limb shortening |
|
|
|
|
2 / 7739
|
80
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
|
|
28 / 7739
|
81
|
(HPO:0006191)
|
Deep palmar crease |
|
|
|
|
16 / 7739
|
82
|
(HPO:0006276)
|
Hyperechogenic pancreas |
|
|
|
|
1 / 7739
|
83
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
84
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
85
|
(HPO:0011401)
|
Delayed peripheral myelination |
|
|
|
|
1 / 7739
|
86
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
87
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
88
|
(OMIM)
|
Hypoplastic orbital ridges |
|
|
|
|
1 / 7739
|
89
|
(OMIM)
|
Retinal abnormalities |
|
|
|
|
1 / 7739
|
90
|
(OMIM)
|
Optic nerve abnormalities |
|
|
|
|
1 / 7739
|
91
|
(OMIM)
|
Gastroesophageal reflux, severe |
|
|
|
|
3 / 7739
|
92
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
93
|
(OMIM)
|
Upper limb rhizomelia |
|
|
|
|
1 / 7739
|
94
|
(OMIM)
|
Unusual upper limb position (elbow and wrist flexion) |
|
|
|
|
1 / 7739
|
95
|
(OMIM)
|
Ulnar deviation of the metacarpophalangeal joints |
|
|
|
|
1 / 7739
|
96
|
(OMIM)
|
Long hair |
|
|
|
|
1 / 7739
|
97
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
98
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
99
|
(OMIM)
|
Focal nodular heterotopia |
|
|
|
|
1 / 7739
|
100
|
(OMIM)
|
Small brainstem |
|
|
|
|
4 / 7739
|
101
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
102
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
103
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
104
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
105
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
106
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
107
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
108
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
109
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
110
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
111
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
112
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
113
|
(HPO:0000587)
|
Abnormality of the optic nerve |
|
|
|
|
5 / 7739
|
114
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|