|
febrile convulsions, familial, 2
|
C566541 |
|
|
retinal pigment epithelium lesions, discolored teeth sensorineural hearing loss
|
C566560 |
|
|
alzheimer disease, familial, 5
|
C566578 |
|
|
familial, 2 febrile convulsions
|
C566541 |
|
|
seizures, familial febrile, 2
|
C566541 |
|
|
congenital, 2 fibrosis of extraocular muscles
|
C566587 |
|
|
ectodermal dysplasia, hidrotic, autosomal recessive
|
C566553 |
|
|
cleft palate, hearing loss, and camptodactyly facial dysmorphism
|
C566524 |
|
|
synergistic divergence, jaw winking, and oculocutaneous hypopigmentation external ophthalmoplegia
|
C566509 |
|
|
combined, 1 hyperlipidemia
|
C566535 |
|
|
progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly arterial occlusive disease
|
C566529 |
|
|
glaucoma 1, open angle, d
|
C566551 |
|
|
autosomal dominant lewy body parkinson disease 3
|
C566552 |
|
