MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Congenital muscular dystrophy

ORPHA:97242Cat.
Autosomal dominant, Autosomal recessive

Congenital muscular dystrophy due to LMNA mutation

ORPHA:157973Disease
Autosomal dominant

Congenital muscular dystrophy type 1B

ORPHA:98893Disease
Autosomal recessive

Congenital muscular dystrophy with cerebellar involvement

ORPHA:370959Disease
Autosomal recessive

Congenital muscular dystrophy with hyperlaxity

ORPHA:371007Disease

Congenital muscular dystrophy with integrin alpha-7 deficiency

ORPHA:34520Disease
Autosomal recessive

Congenital muscular dystrophy with intellectual disability

ORPHA:370968Disease
Autosomal recessive

Congenital muscular dystrophy with intellectual disability and severe epilepsy

ORPHA:329178Disease
Autosomal recessive

Congenital muscular dystrophy without intellectual disability

ORPHA:370980Disease
Autosomal recessive

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Malform.
Autosomal recessive

Congenital muscular dystrophy-cataract-intellectual disability syndrome

ORPHA:662184Disease
Autosomal recessive

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

ORPHA:1875Disease
Autosomal recessive

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

ORPHA:486815Disease
Autosomal recessive

Congenital myasthenic syndrome

ORPHA:590Disease
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

ORPHA:716881Etio. sub.
Autosomal recessive

Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

ORPHA:716899Etio. sub.
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

ORPHA:716893Etio. sub.
Autosomal recessive

Congenital myasthenic syndrome with glycosylation defect

ORPHA:353327Etio. sub.
Autosomal recessive

Congenital myasthenic syndrome with kinetic defect

ORPHA:716742Etio. sub.
Autosomal dominant, Autosomal recessive

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

ORPHA:716772Etio. sub.
Autosomal recessive

Congenital myasthenic syndromes due to defective axonal transport

ORPHA:716889Etio. sub.
Autosomal recessive

Congenital myopathy

ORPHA:97245Cat.

Congenital myopathy with excess of thin filaments

ORPHA:98904Disease
Autosomal dominant

Congenital myopathy with internal nuclei and atypical cores

ORPHA:319160Disease
Autosomal dominant