|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
2/2 [HPO:probinson]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
2/2 [HPO:probinson]
|
|
|
|
87 / 7739
|
|
3
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
4
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
6
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0000561)
|
Absent eyelashes |
2/2 [HPO:probinson]
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0007587)
|
Numerous pigmented freckles |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0000482)
|
Microcornea |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
12
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
13
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
2/2 [HPO:probinson]
|
|
|
|
180 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
16
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0002223)
|
Absent eyebrow |
2/2 [HPO:probinson]
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
21
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
23
|
(HPO:0002084)
|
Encephalocele |
1/2 [HPO:probinson]
|
|
|
|
70 / 7739
|
|
24
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
25
|
(HPO:0002478)
|
Progressive spastic quadriplegia |
2/2 [HPO:probinson]
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0003196)
|
Short nose |
2/2 [HPO:probinson]
|
|
|
|
264 / 7739
|
|
27
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
28
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
29
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
30
|
(OMIM)
|
Spinal cyst |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
32
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
33
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|