Rare Disease Library

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

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

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Kennedy disease

SBMA · X-linked BSMA

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

X-linked adrenoleukodystrophy

ALD · X-ALD

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

X-linked mendelian susceptibility to mycobacterial diseases

X-linked MSMD