Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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 mandibulofacial dysostosis
X-linked recessive
Neonatal
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked recessive
Antenatal, Neonatal
X-linked retinoschisis
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked severe syndromic thoracic aortic aneurysm and dissection
Adolescent, Childhood, Infancy
X-linked skeletal dysplasia-intellectual disability syndrome
X-linked recessive
Neonatal
X-linked spinocerebellar ataxia type 3
X-linked recessive
Childhood
XK aprosencephaly syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
XY type gonadal dysgenesis-associated anomalies syndrome
Autosomal recessive
Neonatal
Xp22.13p22.2 duplication syndrome
X-linked recessive
Infancy, Neonatal
Xp22.3 microdeletion syndrome
Not applicable
Neonatal
Xq12-q13.3 duplication syndrome
X-linked recessive
Infancy, Neonatal
Xq21 microdeletion syndrome
X-linked recessive
Infancy, Neonatal
Xq25 microduplication syndrome
Childhood, Infancy
Xq27.3q28 duplication syndrome
X-linked recessive
Infancy, Neonatal
Yunis-Varon syndrome
Autosomal recessive
Antenatal, Neonatal
ZTTK syndrome
Autosomal dominant
Neonatal
Zechi-Ceide syndrome
Autosomal recessive
Infancy, Neonatal
Zimmermann-Laband syndrome
Autosomal recessive
Neonatal