|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
13
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
15
|
(HPO:0002280)
|
Enlarged cisterna magna |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
19
|
(HPO:0006892)
|
Frontotemporal cerebral atrophy |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
21
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
22
|
(OMIM)
|
Small concave nose |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Poor dental development |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Regression of motor development |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Decreased active movements |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Seizures, complex, myoclonic |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Cerebral atrophy, frontotemporal, progressive |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
29
|
(OMIM)
|
Caudate nuclei atrophy |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Periventricular white matter changes |
|
|
|
|
7 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
33
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|