HealthSignal

Rare conditions starting with X

Every condition in the NIH Genetic and Rare Diseases Information Center has its own HealthSignal community page, with condition information, stories, research and Signals sign-up.

Search all conditions

105 conditions starting with X

X small rings
X-linked acrogigantism due to Xq26 microduplication
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
X-linked calvarial hyperostosis
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked cerebral adrenoleukodystrophy
X-linked cerebral-cerebellar-coloboma syndrome syndrome
X-linked chondrodysplasia punctata 1
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked cone dysfunction syndrome with myopia
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-linked congenital generalized hypertrichosis
X-linked congenital stationary night blindness
X-linked corneal dermoid
X-linked diffuse leiomyomatosis-Alport syndrome
X-linked distal spinal muscular atrophy type 3
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked dystonia-parkinsonism
X-linked Ehlers-Danlos syndrome
X-linked endothelial corneal dystrophy
X-linked erythropoietic protoporphyria
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked hereditary sensory and autonomic neuropathy with hearing loss
X-linked hydrocephalus syndrome
X-linked ichthyosis with steryl-sulfatase deficiency
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunoneurologic disorder
X-linked intellectual disability Cabezas type
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-craniofacioskeletal syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability, Stoll type
X-linked intellectual disability, van Esch type
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
X-linked lethal multiple pterygium syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome
X-linked mandibulofacial dysostosis
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked mixed hearing loss with perilymphatic gusher
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
X-linked non progressive cerebellar ataxia
X-linked osteoporosis with fractures
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked reticulate pigmentary disorder
X-linked retinal dysplasia
X-linked scapuloperoneal muscular dystrophy
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
X-linked spasticity-intellectual disability-epilepsy syndrome
X-linked spinocerebellar ataxia type 3
X-linked spinocerebellar ataxia type 4
X-linked spondyloepimetaphyseal dysplasia
Xanthinuria type II
Xanthoma disseminatum
Xerocytosis
Xeroderma pigmentosum
Xeroderma pigmentosum variant type
Xeroderma pigmentosum-Cockayne syndrome complex
XK aprosencephaly
Xp22.13p22.2 duplication syndrome
Xp22.3 microdeletion syndrome
Xq12-q13.3 duplication syndrome
Xq25 microduplication syndrome
Xq27.3q28 duplication syndrome
XXYY syndrome
XY type gonadal dysgenesis-associated anomalies syndrome
XYLT1-congenital disorder of glycosylation

Find your
condition community

Find Now

Share your
experience with others

Share Now

Journal your
experience privately

Journal Now