MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Congenital muscular dystrophy

ORPHA:97242Kat.
Autosomal dominant, Autosomal recessive

Congenital muscular dystrophy due to LMNA mutation

ORPHA:157973Kr.
Autosomal dominant

Congenital muscular dystrophy type 1B

ORPHA:98893Kr.
Autosomal recessive

Congenital muscular dystrophy with cerebellar involvement

ORPHA:370959Kr.
Autosomal recessive

Congenital muscular dystrophy with hyperlaxity

ORPHA:371007Kr.

Congenital muscular dystrophy with integrin alpha-7 deficiency

ORPHA:34520Kr.
Autosomal recessive

Congenital muscular dystrophy with intellectual disability

ORPHA:370968Kr.
Autosomal recessive

Congenital muscular dystrophy with intellectual disability and severe epilepsy

ORPHA:329178Kr.
Autosomal recessive

Congenital muscular dystrophy without intellectual disability

ORPHA:370980Kr.
Autosomal recessive

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Malf.
Autosomal recessive

Congenital muscular dystrophy-cataract-intellectual disability syndrome

ORPHA:662184Kr.
Autosomal recessive

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

ORPHA:1875Kr.
Autosomal recessive

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

ORPHA:486815Kr.
Autosomal recessive

Congenital myasthenic syndrome

ORPHA:590Kr.
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

ORPHA:716881Ätl. subt.
Autosomal recessive

Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

ORPHA:716899Ätl. subt.
Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

ORPHA:716893Ätl. subt.
Autosomal recessive

Congenital myasthenic syndrome with glycosylation defect

ORPHA:353327Ätl. subt.
Autosomal recessive

Congenital myasthenic syndrome with kinetic defect

ORPHA:716742Ätl. subt.
Autosomal dominant, Autosomal recessive

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

ORPHA:716772Ätl. subt.
Autosomal recessive

Congenital myasthenic syndromes due to defective axonal transport

ORPHA:716889Ätl. subt.
Autosomal recessive

Congenital myopathy

ORPHA:97245Kat.

Congenital myopathy with excess of thin filaments

ORPHA:98904Kr.
Autosomal dominant

Congenital myopathy with internal nuclei and atypical cores

ORPHA:319160Kr.
Autosomal dominant