|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
4
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0005989)
|
Redundant neck skin |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0009553)
|
Abnormality of the hairline |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
12
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
13
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
14
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
15
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
16
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
19
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
21
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
22
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
23
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
24
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
25
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
27
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
28
|
(HPO:0002057)
|
Prominent glabella |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0002236)
|
Frontal upsweep of hair |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
31
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
32
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
33
|
(OMIM)
|
Facial anomalies |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Low upswept frontal hairline |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Partial camptodactyly |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
37
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
38
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
39
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
40
|
(HPO:0008544)
|
Abnormally folded helix |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|