|
Intellectual developmental disorder, autosomal recessive
|
PS249500 |
|
|
intellectual developmental disorder, autosomal dominant 58
|
618106 |
|
|
SIGLEC15
|
618105 |
|
|
cataract 5, multiple types
|
116800 |
|
|
asperger syndrome, susceptibility to, 3
|
608781 |
|
|
GTF2H5
|
608780 |
|
|
thanatophoric dysplasia, glasgow variant
|
273680 |
|
|
TNFRSF19
|
606122 |
|
|
HTRA3
|
608785 |
|
|
ZDHHC8
|
608784 |
|
|
RNF16
|
606123 |
|
|
SMYD3
|
608783 |
|
|
606120
|
606120 |
|
|
CRCP
|
606121 |
|
|
pyruvate dehydrogenase phosphatase deficiency
|
608782 |
|
|
Pyruvate dehydrogenase complex deficiency
|
PS312170 |
|
|
BCL2L14
|
606126 |
|
|
NCKAP5
|
608789 |
|
|
SOCS7
|
608788 |
|
|
MYOCD
|
606127 |
|
