Rare Disease Library

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Christianson syndrome

X-linked Angelman-like syndrome

Dyssegmental dysplasia-glaucoma syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Spondylometaphyseal dysplasia, Golden type

X-linked spondylometaphyseal dysplasia

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

X-linked Alport syndrome

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked ichthyosis syndrome

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome