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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Congenital muscular dystrophy

ORPHA:97242Сан.
Autosomal dominant, Autosomal recessive

Congenital muscular dystrophy due to LMNA mutation

ORPHA:157973Ауру
Autosomal dominant

Congenital muscular dystrophy type 1B

ORPHA:98893Ауру
Autosomal recessive

Congenital muscular dystrophy with cerebellar involvement

ORPHA:370959Ауру
Autosomal recessive

Congenital muscular dystrophy with hyperlaxity

ORPHA:371007Ауру

Congenital muscular dystrophy with integrin alpha-7 deficiency

ORPHA:34520Ауру
Autosomal recessive

Congenital muscular dystrophy with intellectual disability

ORPHA:370968Ауру
Autosomal recessive

Congenital muscular dystrophy with intellectual disability and severe epilepsy

ORPHA:329178Ауру
Autosomal recessive

Congenital muscular dystrophy without intellectual disability

ORPHA:370980Ауру
Autosomal recessive

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Мальф.
Autosomal recessive

Congenital muscular dystrophy-cataract-intellectual disability syndrome

ORPHA:662184Ауру
Autosomal recessive

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

ORPHA:1875Ауру
Autosomal recessive

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

ORPHA:486815Ауру
Autosomal recessive

Congenital myasthenic syndrome

ORPHA:590Ауру
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

ORPHA:716881Этио. под.
Autosomal recessive

Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

ORPHA:716899Этио. под.
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

ORPHA:716893Этио. под.
Autosomal recessive

Congenital myasthenic syndrome with glycosylation defect

ORPHA:353327Этио. под.
Autosomal recessive

Congenital myasthenic syndrome with kinetic defect

ORPHA:716742Этио. под.
Autosomal dominant, Autosomal recessive

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

ORPHA:716772Этио. под.
Autosomal recessive

Congenital myasthenic syndromes due to defective axonal transport

ORPHA:716889Этио. под.
Autosomal recessive

Congenital myopathy

ORPHA:97245Сан.

Congenital myopathy with excess of thin filaments

ORPHA:98904Ауру
Autosomal dominant

Congenital myopathy with internal nuclei and atypical cores

ORPHA:319160Ауру
Autosomal dominant