Alström syndrome
|
(Orphanet:64)
|
Autosomal dominant progressive external ophthalmoplegia
|
(Orphanet:254892)
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2
|
(OMIM:613987)
|
Diaphragmatic defect - limb deficiency - skull defect
|
(Orphanet:2141)
|
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
|
(OMIM:308700)
|
Hemochromatosis, type 1
|
(OMIM:235200)
|
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA
|
(OMIM:308750)
|
Kennedy disease
|
(Orphanet:481)
|
LESCH-NYHAN SYNDROME
|
(OMIM:300322)
|
Lesch-Nyhan syndrome
|
(Orphanet:510)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1
|
(OMIM:157640)
|
Steinert myotonic dystrophy
|
(Orphanet:273)
|
Wolfram syndrome 1
|
(OMIM:222300)
|