Cerebrotendinous xanthomatosis
|
(Orphanet:909)
|
Craniometadiaphyseal dysplasia, wormian bone type
|
(Orphanet:85184)
|
Ehlers-Danlos syndrome type 7A
|
(Orphanet:99875)
|
Ehlers-Danlos syndrome type 7B
|
(Orphanet:99876)
|
Ehlers-Danlos syndrome, arthrochalasic type
|
(Orphanet:1899)
|
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
|
(Orphanet:300179)
|
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
|
(OMIM:615266)
|
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA
|
(OMIM:615267)
|
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
|
(OMIM:615269)
|
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA
|
(OMIM:615270)
|
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
|
(OMIM:615271)
|
Infantile hypophosphatasia
|
(Orphanet:247651)
|
Lethal multiple pterygium syndrome
|
(Orphanet:33108)
|
Mohr-Tranebjaerg syndrome
|
(Orphanet:52368)
|
Osteoglophonic dwarfism
|
(Orphanet:2645)
|
Perinatal lethal hypophosphatasia
|
(Orphanet:247623)
|
Pyle disease
|
(Orphanet:3005)
|
X-linked lethal multiple pterygium syndrome
|
(Orphanet:79447)
|