Alström syndrome
|
(Orphanet:64)
|
Autosomal recessive spastic paraplegia type 46
|
(Orphanet:320391)
|
Bardet-Biedl syndrome
|
(Orphanet:110)
|
Bardet-Biedl syndrome 12
|
(OMIM:615989)
|
Bardet-Biedl syndrome 2
|
(OMIM:615981)
|
Bardet-Biedl syndrome 4
|
(OMIM:615982)
|
Bardet-Biedl syndrome 5
|
(OMIM:615983)
|
Bardet-Biedl syndrome 7
|
(OMIM:615984)
|
Bardet-Biedl syndrome 9
|
(OMIM:615986)
|
CYSTINOSIS, NEPHROPATHIC
|
(OMIM:219800)
|
Cystinosis
|
(Orphanet:213)
|
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY
|
(OMIM:241000)
|
HYPOGONADISM, MALE
|
(OMIM:307300)
|
HYPOGONADISM, MALEHYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED
|
(OMIM:241100)
|
Hypergonadotropic hypogonadism - cataract syndrome
|
(Orphanet:2410)
|
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED
|
(OMIM:308200)
|
LUTEINIZING HORMONE, BETA POLYPEPTIDE
|
(OMIM:152780)
|
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies
|
(Orphanet:2234)
|
Steinert myotonic dystrophy
|
(Orphanet:273)
|
Wolfram syndrome 1
|
(OMIM:222300)
|