Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Unknown
No data available
Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy
Autosomal recessive
Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
Autosomal dominant
Antenatal, Neonatal
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Autosomal recessive
Adolescent, Childhood
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Autosomal recessive
Neonatal
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Autosomal recessive
Infancy, Neonatal
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Neonatal
Faciocardiorenal syndrome
Autosomal recessive
Neonatal
Fallot complex-intellectual disability-growth delay syndrome
Autosomal recessive
Infancy, Neonatal
Familial caudal dysgenesis
Autosomal dominant
Infancy, Neonatal
Familial cerebral cavernous malformation
Autosomal dominant
All ages
Familial clubfoot with or without associated lower limb anomalies
Autosomal dominant
Infancy, Neonatal
Familial digital arthropathy-brachydactyly
Autosomal dominant
Infancy, Neonatal
Familial isolated café-au-lait macules
Autosomal dominant
Childhood
Familial median cleft of the upper and lower lips
Unknown
Neonatal
Familial omphalocele syndrome with facial dysmorphism
Autosomal dominant
Infancy, Neonatal
Familial osteodysplasia, Anderson type
Neonatal
Familial retinal arterial macroaneurysm
Autosomal recessive
Childhood
Familial scaphocephaly syndrome, McGillivray type
Autosomal dominant
Infancy, Neonatal
Familial vesicoureteral reflux
Autosomal dominant
All ages
Fanconi anemia
Autosomal recessive, X-linked recessive
Childhood
Feingold syndrome
Autosomal dominant
Antenatal, Neonatal
Femoral-facial syndrome
Not applicable
Antenatal, Neonatal