1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
2
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
9
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
10
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
11
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
12
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
13
|
(HPO:0001760)
|
Abnormality of the foot |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
14
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
15
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
16
|
(HPO:0002510)
|
Spastic tetraplegia |
3/8 [HPO:probinson]
|
|
|
|
54 / 7739
|
17
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
18
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
19
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
20
|
(HPO:0200055)
|
Small hand |
rare [HPO:skoehler]
|
|
|
|
71 / 7739
|
21
|
(OMIM)
|
Facial dysmorphism, mild |
|
|
|
|
3 / 7739
|
22
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
23
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
24
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
25
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
26
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
27
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
28
|
(OMIM)
|
Pachygyria, usually posterior |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Polymicrogyria, usually frontal (in some patients) |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Nodular heterotopia |
|
|
|
|
4 / 7739
|
31
|
(OMIM)
|
Dysmorphic basal ganglia |
|
|
|
|
4 / 7739
|
32
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|