Rare Disease Library

X-linked non progressive cerebellar ataxia

X-linked non-syndromic intellectual disability

X-linked osteoporosis with fractures

X-linked parkinsonism-spasticity syndrome

XPDS

X-linked progressive cerebellar ataxia

X-linked pure spastic paraplegia

X-linked recessive ocular albinism

OA1 · Ocular albinism type 1

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

X-linked retinoschisis

X-linked juvenile retinoschisis · XLRS

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

X-linked severe congenital neutropenia

X-linked severe syndromic thoracic aortic aneurysm and dissection

Meester-Loeys syndrome · X-linked severe syndromic TAAD

X-linked sideroblastic anemia

XLSA

X-linked sideroblastic anemia and spinocerebellar ataxia

Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

X-linked spastic paraplegia type 16

SPG16

X-linked spastic paraplegia type 34

SPG34

X-linked spasticity-intellectual disability-epilepsy 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

X-linked spondyloepimetaphyseal dysplasia

X-linked thrombocytopenia with normal platelets

Xanthinuria type I

XDH deficiency · XO deficiency

Xanthinuria type II

XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

Xanthoma disseminatum

Montgomery syndrome

Xeroderma pigmentosum

Xeroderma pigmentosum variant

XPV

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

Xp22.3 microdeletion syndrome

Del(X)(p23)

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28

XY type gonadal dysgenesis-associated anomalies syndrome

XYLT1-CDG

Y chromosome number anomaly syndrome

Yellow fever

Bronze John · YF

Yersinia pseudotuberculosis infection

Y. pseudotuberculosis infection

Yolk sac tumor

Endodermal sinus tumor

Yolk sac tumor of central nervous system

Endodermal sinus tumor of CNS · Endodermal sinus tumor of central nervous system

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome