1
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
6
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
9
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
16
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
17
|
(HPO:0011902)
|
Abnormal hemoglobin |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
18
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
19
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
20
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
21
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
22
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
23
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
25
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
26
|
(HPO:0001935)
|
Microcytic anemia |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
27
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
28
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
29
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
30
|
(HPO:0000451)
|
Triangular nasal tip |
|
|
|
|
8 / 7739
|
31
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
32
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
33
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
34
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
35
|
(HPO:0001250)
|
Seizures |
Rare [HPO:probinson]
|
|
|
|
1245 / 7739
|
36
|
(HPO:0001555)
|
Asymmetry of the thorax |
|
|
|
|
15 / 7739
|
37
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
38
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
39
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
40
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
41
|
(HPO:0004425)
|
Flat forehead |
|
|
|
|
6 / 7739
|
42
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
|
|
15 / 7739
|
43
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
44
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
45
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
46
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
47
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
48
|
(HPO:0011903)
|
Hemoglobin H |
|
|
|
|
3 / 7739
|
49
|
(HPO:0011907)
|
Reduced alpha/beta synthesis ratio |
|
|
|
|
6 / 7739
|
50
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
51
|
(OMIM)
|
Obesity, mild (less common) |
|
|
|
|
8 / 7739
|
52
|
(OMIM)
|
Wide, flat, broad forehead |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Retrognathia, mild |
|
|
|
|
3 / 7739
|
54
|
(Orphanet:15360)
|
Abnormally placed nipples |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Clinodactyly of isolated digits |
|
|
|
|
8 / 7739
|
56
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
57
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
58
|
(OMIM)
|
Alpha-thalassemia |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Hb H inclusions in red blood cells |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Subtelomeric deletion of chromosome 16p |
|
|
|
|
1 / 7739
|
61
|
(MedDRA:10040251)
|
Serum ferritin normal |
|
|
|
|
1 / 7739
|
62
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
63
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
64
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
65
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
66
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
67
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
68
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
69
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
70
|
(HPO:0001466)
|
Contiguous gene syndrome |
|
|
|
|
8 / 7739
|
71
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|