1
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
3
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
4
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
6
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
7
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
8
|
(HPO:0010632)
|
Total anosmia |
|
|
|
|
6 / 7739
|
9
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
13
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
14
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
15
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
16
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
17
|
(HPO:0004661)
|
Frontalis muscle weakness |
|
|
|
|
2 / 7739
|
18
|
(HPO:0006889)
|
Intellectual disability, borderline |
|
|
|
|
6 / 7739
|
19
|
(HPO:0007715)
|
Weak extraocular muscles |
|
|
|
|
1 / 7739
|
20
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
21
|
(OMIM)
|
Borderline small occipitofrontal head circumference (3rd-25th percentile) |
|
|
|
|
1 / 7739
|
22
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
23
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
26
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|