Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
X-linked intellectual disability, Seemanova type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Shashi type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Shrimpton type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Siderius type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Snyder type
X-linked recessive
Adolescent, Childhood, Infancy
X-linked intellectual disability, Stevenson type
X-linked recessive
Childhood
X-linked intellectual disability, Stocco Dos Santos type
X-linked recessive
Childhood
X-linked intellectual disability, Stoll type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Sutherland-Haan type
X-linked recessive
Antenatal, Infancy, Neonatal
X-linked intellectual disability, Van Esch type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Wilson type
X-linked dominant, X-linked recessive
Childhood
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked recessive
Antenatal, Neonatal
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked recessive
Childhood
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked recessive
Childhood
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked dominant
Infancy, Neonatal
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-craniofacioskeletal syndrome
Unknown
Antenatal, Infancy, Neonatal
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked recessive
Childhood
X-linked intellectual disability-epilepsy syndrome
X-linked dominant, X-linked recessive
Childhood
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
X-linked recessive
Antenatal, Neonatal
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked recessive
Childhood