1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
4
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
5
|
(HPO:0001601)
|
Laryngomalacia |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
9
|
(HPO:0000194)
|
Open mouth |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
10
|
(HPO:0000600)
|
Abnormality of the pharynx |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
11
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
12
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
13
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
|
|
|
|
10 / 7739
|
14
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
15
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
16
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
17
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
18
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
19
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
20
|
(HPO:0006990)
|
Myelin-dependent gliosis |
|
|
|
|
1 / 7739
|
21
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
22
|
(OMIM)
|
Stiff, myopathic facies |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Thumb adducted and flexed |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Arthrogryposis of elbows, wrists, and knees |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Dysmyelination with excess myelin-dependent gliosis |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Myelin solubilization |
|
|
|
|
1 / 7739
|
27
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
29
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|