Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
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-hypotonia-movement disorder syndrome
X-linked dominant
Adolescent, Childhood
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked recessive
Antenatal, Neonatal
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-retinitis pigmentosa syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked recessive
Infancy, Neonatal
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
X-linked lethal multiple pterygium syndrome
X-linked dominant, X-linked recessive
Antenatal, Neonatal
X-linked lissencephaly with abnormal genitalia
X-linked recessive
Neonatal
X-linked lymphoproliferative disease
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked lymphoproliferative disease due to SAP deficiency
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked mandibulofacial dysostosis
X-linked recessive
Neonatal
X-linked mendelian susceptibility to mycobacterial diseases
X-linked recessive
Adolescent, Childhood, Infancy
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked recessive
Antenatal, Neonatal
X-linked myopathy with excessive autophagy
X-linked recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
X-linked myopathy with postural muscle atrophy
X-linked recessive
Adult
X-linked myotubular myopathy-abnormal genitalia syndrome
Unknown
Antenatal, Neonatal
X-linked neurodegenerative syndrome, Bertini type
X-linked recessive
Infancy, Neonatal
X-linked neurodegenerative syndrome, Hamel type
X-linked recessive
Infancy, Neonatal