Rare Disease Library

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Suarez-Stickler syndrome

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

Marbach-Rustad progeroid syndrome · LEMD2-associated nuclear envelopathy with early progeroid appearance

Worster-Drought syndrome

Congenital suprabulbar paresis

Wound botulism

Cutaneous infectious botulism · Cutaneous toxin-mediated botulism

Wound myiasis

Traumatic myiasis

Wrinkly skin syndrome

WSS · Wrinkled skin syndrome

WT limb-blood syndrome

X and Y chromosomal anomaly syndrome

X chromosome number anomaly syndrome

X chromosome number anomaly with female phenotype syndrome

X chromosome number anomaly with male phenotype syndrome

X small rings syndrome

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

X-linked adrenoleukodystrophy

ALD · X-ALD

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked Alport syndrome

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

X-linked calvarial hyperostosis

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked centronuclear myopathy

XLCNM · XLMTM

X-linked cerebellar ataxia

X-linked cerebral adrenoleukodystrophy

X-CALD

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

X-linked Charcot-Marie-Tooth disease type 1

CMT1X · CMTX1

X-linked Charcot-Marie-Tooth disease type 2

CMTX2

X-linked Charcot-Marie-Tooth disease type 3

CMT3X · CMTX3

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

X-linked Charcot-Marie-Tooth disease type 5

CMT5X · CMTX5

X-linked Charcot-Marie-Tooth disease type 6

CMT6X · CMTX6

X-linked cleft palate and ankyloglossia

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

SPG1

X-linked cone dysfunction syndrome with myopia

Bornholm eye disease

X-linked congenital generalized hypertrichosis

Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

X-linked corneal dermoid

Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

X-linked distal hereditary motor neuropathy

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

X-linked distal myopathy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX