|
1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001545)
|
Anteriorly placed anus |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
6
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
7
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
|
10
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
14
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
17
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
18
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
19
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
20
|
(HPO:0009623)
|
Proximal placement of thumb |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
23
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
24
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
25
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
27
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
28
|
(OMIM)
|
Anus anteriorly displaced |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
30
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
31
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|