|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
19200522
|
IBIS
|
644 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
4/6 [HPO:probinson]
|
|
19200522
|
IBIS
|
524 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
19200522
|
IBIS
|
290 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
19200522
|
IBIS
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
19200522
|
IBIS
|
853 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
5/8 [HPO:probinson]
|
|
19200522
|
IBIS
|
1245 / 7739
|
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
6/8 [HPO:probinson]
|
|
19200522
|
IBIS
|
101 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
2/8 [HPO:probinson]
|
|
19200522
|
IBIS
|
705 / 7739
|
|
9
|
(HPO:0008872)
|
Feeding difficulties in infancy |
5/8 [HPO:probinson]
|
|
19200522
|
IBIS
|
153 / 7739
|
|
10
|
(HPO:0011220)
|
Prominent forehead |
3/8 [HPO:probinson]
|
|
19200522
|
IBIS
|
137 / 7739
|
|
11
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|