|
GGA3
|
606006 |
|
|
PEX26
|
608666 |
|
|
transaldolase deficiency
|
606003 |
|
|
GGA1
|
606004 |
|
|
PSMC3IP
|
608665 |
|
|
ichthyosis prematurity syndrome
|
608649 |
|
|
SEC63
|
608648 |
|
|
Ectodermal dysplasia (select examples)
|
PS305100 |
|
|
ciliary dyskinesia, primary, 5
|
608647 |
|
|
Primary ciliary dyskinesia
|
PS244400 |
|
|
phaver syndrome
|
261575 |
|
|
AMY1C
|
104702 |
|
|
AMY1B
|
104701 |
|
|
deafness, autosomal recessive 32, with or without immotile sperm
|
608653 |
|
|
Deafness, autosomal recessive
|
PS220290 |
|
|
deafness, autosomal dominant 47
|
608652 |
|
|
Deafness, autosomal dominant
|
PS124900 |
|
|
AGAP1
|
608651 |
|
|
ULK2
|
608650 |
|
|
JDP2
|
608657 |
|
