Rare Disease Library

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

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

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Branchial arch or oral-acral syndrome

Branchio-oculo-facial syndrome

BOFS

Branchiootic syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Christianson syndrome

X-linked Angelman-like syndrome

Genetic branchial arch or oral-acral syndrome

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

X-linked Alport syndrome

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

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 scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal 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