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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Congenital muscular dystrophy

ORPHA:97242Кат.
Autosomal dominant, Autosomal recessive

Congenital muscular dystrophy due to LMNA mutation

ORPHA:157973Заболевание
Autosomal dominant

Congenital muscular dystrophy type 1B

ORPHA:98893Заболевание
Autosomal recessive

Congenital muscular dystrophy with cerebellar involvement

ORPHA:370959Заболевание
Autosomal recessive

Congenital muscular dystrophy with hyperlaxity

ORPHA:371007Заболевание

Congenital muscular dystrophy with integrin alpha-7 deficiency

ORPHA:34520Заболевание
Autosomal recessive

Congenital muscular dystrophy with intellectual disability

ORPHA:370968Заболевание
Autosomal recessive

Congenital muscular dystrophy with intellectual disability and severe epilepsy

ORPHA:329178Заболевание
Autosomal recessive

Congenital muscular dystrophy without intellectual disability

ORPHA:370980Заболевание
Autosomal recessive

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Порок
Autosomal recessive

Congenital muscular dystrophy-cataract-intellectual disability syndrome

ORPHA:662184Заболевание
Autosomal recessive

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

ORPHA:1875Заболевание
Autosomal recessive

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

ORPHA:486815Заболевание
Autosomal recessive

Congenital myasthenic syndrome

ORPHA:590Заболевание
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

ORPHA:716881Этиол. подт.
Autosomal recessive

Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

ORPHA:716899Этиол. подт.
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

ORPHA:716893Этиол. подт.
Autosomal recessive

Congenital myasthenic syndrome with glycosylation defect

ORPHA:353327Этиол. подт.
Autosomal recessive

Congenital myasthenic syndrome with kinetic defect

ORPHA:716742Этиол. подт.
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance

ORPHA:716772Этиол. подт.
Autosomal recessive

Congenital myasthenic syndromes due to defective axonal transport

ORPHA:716889Этиол. подт.
Autosomal recessive

Congenital myopathy

ORPHA:97245Кат.

Congenital myopathy with excess of thin filaments

ORPHA:98904Заболевание
Autosomal dominant

Congenital myopathy with internal nuclei and atypical cores

ORPHA:319160Заболевание
Autosomal dominant