|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
5
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0002472)
|
Small cerebral cortex |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Microcephaly, severe |
|
|
|
|
4 / 7739
|
|
11
|
(OMIM)
|
Conical-shaped teeth (in one patient) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
13
|
(OMIM)
|
Small but structurally normal cerebral cortex |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
15
|
(OMIM)
|
Small frontal lobes (in one patient) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Partial absence of the corpus callosum (in one patient) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Tonic clonic seizures, infrequent (in one patient) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0009879)
|
Cortical gyral simplification |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|