| 1 |
|
DNR006 |
Duane Retraction Syndrome 3 with or Without Deafness
|
23 |
| 2 |
c |
DFN331 |
Deafness, Congenital, with Onychodystrophy, Autosomal Dominant
|
32 |
| 3 |
|
BRB006 |
Barber-Say Syndrome
|
39 |
| 4 |
c |
BRW009 |
Brown-Vialetto-Van Laere Syndrome 1
|
46 |
| 5 |
c |
RNL090 |
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion
|
7 |
| 6 |
c |
PRR026 |
Perrault Syndrome 5
|
25 |
| 7 |
P |
PRR025 |
Perrault Syndrome
|
43 |
| 8 |
|
PLY052 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract
|
44 |
| 9 |
|
MND025 |
Mandibulofacial Dysostosis with Alopecia
|
45 |
| 10 |
P |
RNL028 |
Renal Tubular Dysgenesis
|
52 |
| 11 |
P |
WRD035 |
Waardenburg Syndrome
|
58 |
| 12 |
|
SCH089 |
Schwannomatosis, Vestibular
|
74 |
| 13 |
P |
DFN296 |
Deafness-Onychodystrophy Syndrome
|
13 |
| 14 |
c |
INT503 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12
|
15 |
| 15 |
c |
INT500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17
|
16 |
| 16 |
c |
INT470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 7
|
16 |
| 17 |
|
MCR397 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
|
16 |
| 18 |
c |
INT498 |
Intellectual Developmental Disorder, X-Linked, Syndromic 9
|
18 |
| 19 |
c |
INT429 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32
|
19 |
| 20 |
c |
INT407 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11
|
21 |
