Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Autosomal dominant
Neonatal
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Autosomal recessive
Antenatal, Neonatal
Craniofacial-deafness-hand syndrome
Autosomal dominant
Neonatal
Craniofrontonasal dysplasia
X-linked dominant
Antenatal, Neonatal
Craniofrontonasal dysplasia-Poland anomaly syndrome
Unknown
Neonatal
Craniolenticulosutural dysplasia
Autosomal recessive
Infancy, Neonatal
Craniometadiaphyseal dysplasia, wormian bone type
Autosomal recessive
Neonatal
Craniometaphyseal dysplasia
Autosomal dominant, Autosomal recessive
Childhood
Craniomicromelic syndrome
Infancy, Neonatal
Craniorhiny
Neonatal
Craniosynostosis, Boston type
Autosomal dominant
Infancy, Neonatal
Craniosynostosis, Herrmann-Opitz type
Antenatal
Craniosynostosis, Philadelphia type
Autosomal dominant
Neonatal
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Autosomal dominant
Infancy
Craniosynostosis-anal anomalies-porokeratosis syndrome
Autosomal recessive
Infancy, Neonatal
Craniosynostosis-dental anomalies
Autosomal recessive
Infancy, Neonatal
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Neonatal
Craniosynostosis-intracranial calcifications syndrome
Autosomal recessive
Infancy, Neonatal
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Autosomal dominant
Antenatal, Neonatal
Craniotelencephalic dysplasia
Neonatal
Crisponi syndrome
Autosomal recessive
Neonatal
Crossed polysyndactyly
Autosomal dominant
Antenatal
Crouzon syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal