|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
5
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
6
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
7
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
8
|
(HPO:0000207)
|
Triangular mouth |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
11
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
15
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
16
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
17
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
18
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
19
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
20
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
21
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
22
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
23
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
|
24
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
25
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
26
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
28
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
29
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
30
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
31
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
32
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
33
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
34
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
35
|
(HPO:0002667)
|
Nephroblastoma |
|
|
|
|
30 / 7739
|
|
36
|
(HPO:0002859)
|
Rhabdomyosarcoma |
|
|
|
|
10 / 7739
|
|
37
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
38
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
39
|
(HPO:0005387)
|
Combined immunodeficiency |
|
|
|
|
5 / 7739
|
|
40
|
(HPO:0006849)
|
Hypodysplasia of the corpus callosum |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
42
|
(OMIM)
|
Low postnatal weight |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Growth retardation, prenatal and postnatal |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Microcephaly, severe |
|
|
|
|
4 / 7739
|
|
45
|
(OMIM)
|
Short, wide nose |
|
|
|
|
2 / 7739
|
|
46
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
47
|
(OMIM)
|
Developmental delay, profound |
|
|
|
|
6 / 7739
|
|
48
|
(OMIM)
|
Hypoplastic cerebrum |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Pachymacrogyria |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Cerebral oligogyria |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Posterior fossa malformations |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0004430)
|
Severe combined immunodeficiency |
|
|
|
|
16 / 7739
|
|
53
|
(OMIM)
|
Propensity to tumor development |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
More than 50% of mitotic cells show premature chromatid separation (PCS) affecting all chromosomes |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies |
|
|
|
|
1 / 7739
|