1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
3
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
4
|
(HPO:0002263)
|
Exaggerated cupid's bow |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
5
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
6
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
7
|
(HPO:0002779)
|
Tracheomalacia |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
11
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
12
|
(HPO:0001636)
|
Tetralogy of Fallot |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
13
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
14
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
15
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
16
|
(HPO:0001601)
|
Laryngomalacia |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
17
|
(HPO:0000076)
|
Vesicoureteral reflux |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
18
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
19
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
21
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
23
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
24
|
(HPO:0005607)
|
Abnormality of the tracheobronchial system |
|
|
|
|
2 / 7739
|
25
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
26
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
27
|
(OMIM)
|
Retardation |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Limited mouth opening |
|
|
|
|
2 / 7739
|
29
|
(HPO:0000153)
|
Abnormality of the mouth |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
31
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
32
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
33
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
34
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
35
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
37
|
(HPO:0030260)
|
Microphallus |
|
|
|
|
6 / 7739
|
38
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|