Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Weismann-Netter syndrome
Neonatal
Weiss-Kruszka Syndrome
Autosomal dominant
Antenatal, Neonatal
White forelock with malformations
Infancy, Neonatal
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Neonatal
Wieacker-Wolff syndrome
Not applicable, X-linked recessive
Neonatal
Wiedemann-Rautenstrauch syndrome
Autosomal recessive
Antenatal, Neonatal
Wiedemann-Steiner syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Wildervanck syndrome
Infancy, Neonatal
Williams syndrome
Autosomal dominant
Antenatal, Neonatal
Wilson-Turner syndrome
X-linked dominant, X-linked recessive
Childhood
Witteveen-Kolk syndrome
Autosomal dominant
Antenatal, Neonatal
Wolf-Hirschhorn syndrome
Multigenic/multifactorial, Not applicable
Antenatal, Neonatal
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Unknown
Childhood
Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
Autosomal dominant
Infancy, Neonatal
X small rings syndrome
Antenatal, Neonatal
X-linked alpha-thalassemia-intellectual disability syndrome
X-linked recessive
Infancy, Neonatal
X-linked cleft palate and ankyloglossia
X-linked dominant, X-linked recessive
Infancy, Neonatal
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked recessive
Antenatal, Neonatal
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked recessive
Neonatal
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked dominant
Antenatal, Infancy, Neonatal
X-linked intellectual disability, Abidi type
X-linked recessive
Childhood
X-linked intellectual disability, Armfield type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Cabezas type
X-linked recessive
Childhood
X-linked intellectual disability, Cantagrel type
X-linked recessive
Infancy, Neonatal