1
|
(HPO:0000204)
|
Cleft upper lip |
rare [HPO:skoehler]
|
|
|
|
193 / 7739
|
2
|
(HPO:0000316)
|
Hypertelorism |
Occasional [HPO:probinson]
|
|
|
|
644 / 7739
|
3
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
4
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [HPO:probinson]
|
|
|
|
290 / 7739
|
6
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
7
|
(HPO:0000601)
|
Hypotelorism |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
8
|
(HPO:0000664)
|
Synophrys |
Occasional [HPO:probinson]
|
|
|
|
112 / 7739
|
9
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
11
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
12
|
(HPO:0001956)
|
Truncal obesity |
Occasional [HPO:skoehler]
|
|
|
|
39 / 7739
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
14
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
|
|
|
|
137 / 7739
|
15
|
(HPO:0002714)
|
Downturned corners of mouth |
Occasional [HPO:probinson]
|
|
|
|
98 / 7739
|
16
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
17
|
(OMIM)
|
Short, smooth philtrum |
|
|
|
|
1 / 7739
|
18
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|
19
|
(OMIM)
|
Prominent central incisors |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Long, thin fingers |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
22
|
(OMIM)
|
Language development limited to a few words |
|
|
|
|
1 / 7739
|
23
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
24
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
25
|
(OMIM)
|
Decreased volume of the cerebral white matter |
|
|
|
|
1 / 7739
|
26
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
27
|
(OMIM)
|
Hypoplasia of the inferior cerebellar vermis |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Happy disposition |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
30
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|