1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
3
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
4
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
5
|
(HPO:0000625)
|
Cleft eyelid |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
7
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
11
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
12
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
13
|
(HPO:0000636)
|
Upper eyelid coloboma |
|
|
|
|
7 / 7739
|
14
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
15
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
16
|
(HPO:0002690)
|
Large sella turcica |
|
|
|
|
12 / 7739
|
17
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
18
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|
19
|
(OMIM)
|
Thick philtrum |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Midline nasal cleft |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Prominent lips |
|
|
|
|
7 / 7739
|
22
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
23
|
(OMIM)
|
Large, prominent sella turcica |
|
|
|
|
1 / 7739
|
24
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
25
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
27
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
28
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|