|
1
|
(HPO:0005487)
|
Prominent metopic ridge |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
5
|
(HPO:0000243)
|
Trigonocephaly |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
12
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
13
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
14
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
15
|
(HPO:0000601)
|
Hypotelorism |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
16
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
17
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
20
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
21
|
(HPO:0000216)
|
Broad secondary alveolar ridge |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
24
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
25
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
26
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
|
27
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
|
|
|
|
15 / 7739
|
|
28
|
(HPO:0005494)
|
Premature posterior fontanelle closure |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
30
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
31
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
|
32
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|