Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
X-linked intellectual disability, Pai type
X-linked recessive
Childhood, Infancy
X-linked intellectual disability, Schimke 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, 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, 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-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked recessive
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-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
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
X-linked recessive
Childhood, Infancy
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-plagiocephaly syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked dominant
Childhood
X-linked intellectual disability-short stature-overweight syndrome
X-linked recessive
Adolescent, Childhood, Infancy
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
X-linked recessive
Adolescent, Childhood, Infancy, Neonatal