|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0001022)
|
Albinism |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
|
4
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
|
|
14 / 7739
|
|
7
|
(OMIM)
|
Black lock at temporal occipital region |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Defective intestinal innervation |
|
|
|
|
1 / 7739
|
|
10
|
(MedDRA:10052556)
|
Deafness bilateral |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|