|
1
|
(HPO:0000107)
|
Renal cyst |
common [HPO:skoehler]
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000488)
|
Retinopathy |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000657)
|
Oculomotor apraxia |
obligate [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000718)
|
Aggressive behavior |
common [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000742)
|
Self-mutilation |
common [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
obligate [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001344)
|
Absent speech |
obligate [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
obligate [HPO:skoehler]
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0002419)
|
Molar tooth sign on MRI |
obligate [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0100259)
|
Postaxial polydactyly |
common [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
12
|
(MedDRA:10006334)
|
Breathing abnormalities |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
14
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
15
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
16
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
17
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
18
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
19
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
20
|
(OMIM)
|
Lack of independent ambulation |
|
|
|
|
6 / 7739
|
|
21
|
(OMIM)
|
Molar tooth sign seen on MRI |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
common [HPO:skoehler]
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|