1
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
4
|
(HPO:0000325)
|
Triangular face |
Frequent [Orphanet]
|
|
|
|
91 / 7739
|
5
|
(HPO:0000340)
|
Sloping forehead |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
6
|
(HPO:0000348)
|
High forehead |
Occasional [Orphanet]
|
|
|
|
157 / 7739
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
9
|
(HPO:0000457)
|
Depressed nasal ridge |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
11
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
12
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
13
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
17
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
18
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
19
|
(HPO:0001541)
|
Ascites |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
20
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
21
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
22
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
23
|
(HPO:0002101)
|
Abnormal lung lobation |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
24
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
25
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
26
|
(HPO:0002667)
|
Nephroblastoma |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
27
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
28
|
(HPO:0002863)
|
Myelodysplasia |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
29
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
30
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
31
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
32
|
(HPO:0006753)
|
Neoplasm of the stomach |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
33
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
34
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
35
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
36
|
(HPO:0010880)
|
Increased nuchal translucency |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
37
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
38
|
(HPO:0100273)
|
Neoplasm of the colon |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
39
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
40
|
(HPO:0100650)
|
Vaginal neoplasm |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
41
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
42
|
(HPO:0200008)
|
Intestinal polyposis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
43
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
44
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
45
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
46
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
47
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
48
|
(HPO:0007378)
|
Neoplasm of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
49
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
50
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
51
|
(HPO:0000929)
|
Abnormality of the skull |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
52
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
53
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
54
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
55
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
56
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
57
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
58
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
59
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
60
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
61
|
(HPO:0030448)
|
Soft tissue sarcoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
62
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
63
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
64
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
65
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
67
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
68
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
69
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
70
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
71
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
72
|
(HPO:0000207)
|
Triangular mouth |
|
|
|
|
8 / 7739
|
73
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
74
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
75
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
76
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
77
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
78
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
79
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
80
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
81
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
82
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
83
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
84
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
85
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
86
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
87
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
88
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
89
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
90
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
91
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
92
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
93
|
(HPO:0002859)
|
Rhabdomyosarcoma |
|
|
|
|
10 / 7739
|
94
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
95
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
96
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
97
|
(HPO:0005387)
|
Combined immunodeficiency |
|
|
|
|
5 / 7739
|
98
|
(HPO:0006849)
|
Hypodysplasia of the corpus callosum |
|
|
|
|
2 / 7739
|
99
|
(HPO:0006872)
|
Cerebral hypoplasia |
|
|
|
|
7 / 7739
|
100
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
101
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
102
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
103
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
104
|
(HPO:0200024)
|
Premature chromatid separation |
|
|
|
|
3 / 7739
|