|
1
|
(HPO:0001332)
|
Dystonia |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0002571)
|
Achalasia |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
4
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
5
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
6
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
12
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
13
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
14
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
18
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
20
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
21
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
22
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
23
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
24
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
25
|
(HPO:0007325)
|
Generalized dystonia |
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0008796)
|
Externally rotated hips |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
28
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
|
|
10 / 7739
|
|
29
|
(OMIM)
|
Small for age |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Limited vision |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Antecolis |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Developmental delay, mild |
|
|
|
|
8 / 7739
|
|
33
|
(OMIM)
|
Dystonia, generalized, dopa-unresponsive |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Subnormal cognition |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Actin depolymerizing factor/cofilin-immunoreactive eosinophilic rod-like cytoplasmic inclusions in neocortical and thalamic neurons |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Actin- and actin depolymerizing factor/cofilin-immunoreactive eosinophilic spherical structures in the striatum |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0100613)
|
Death in early adulthood |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
38
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|