Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
CIDEC-related familial partial lipodystrophy
Autosomal recessive
Adolescent
CINCA syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
CLCN4-related X-linked intellectual disability syndrome
X-linked dominant
Childhood, Infancy
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Autosomal dominant
Infancy
CLIPPERS
Not applicable
Adult
CLN1 disease
Autosomal recessive
Infancy
CLN10 disease
Autosomal recessive
Adult, Antenatal, Infancy
CLN11 disease
Adolescent, Infancy
CLN12 disease
Autosomal recessive
Childhood
CLN13 disease
Adolescent, Adult, Childhood, Elderly
CLN14 disease
CLN2 disease
Autosomal recessive
Infancy
CLN3 disease
Autosomal recessive
Infancy
CLN4 disease
Adult
CLN5 disease
Infancy
CLN6 disease
Autosomal recessive
Infancy
CLN7 disease
Infancy
CLN8 disease
Autosomal recessive
Infancy
CNTNAP2-related developmental and epileptic encephalopathy
Autosomal recessive
Infancy
COASY protein-associated neurodegeneration
Autosomal recessive
Childhood
COG1-CDG
Autosomal recessive
Infancy, Neonatal
COG2-CDG
Autosomal recessive
Infancy
COG4-CDG
Autosomal recessive
Infancy, Neonatal
COG5-CDG
Autosomal recessive
Childhood