Rare Disease Library

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Congenital muscular dystrophy with hyperlaxity

CMDH

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

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

Congenital muscular dystrophy, Davignon-Chauveau type

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Congenital myasthenic syndrome

CMS

Congenital myasthenic syndrome with glycosylation defect

Congenital myopathy

Congenital myopathy with cores

Congenital myopathy with excess of thin filaments

Actin myopathy

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Congenital myopathy with myasthenic-like onset

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

Congenital myopathy, Paradas type

Congenital myotonia

Congenital nemaline myopathy

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Congenital neutropenia

Constitutional neutropenia

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · VPS45 deficiency

Congenital non-communicating hydrocephalus

Congenital obstructive hydrocephalus

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

Congenital optic disc excavation

Congenital optic disc excavation of genetic origin

Congenital or early infantile CACH syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

Congenital panfollicular nevus

Congenital partial agenesis of pericardium

Congenital partial pulmonary venous return anomaly

Congenital patella dislocation

Congenital patent ductus arteriosus aneurysm

Congenital pericardium anomaly

Congenital peritoneal encapsulation

CPE · Peritoneal encapsulation syndrome

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital portosystemic shunt

Congenital portosystemic venous fistula

Congenital prekallikrein deficiency

Congenital primary aphakia

Congenital primary lymphedema of Gordon

VEGFC-related congenital primary lymphedema

Congenital primary lymphedema without systemic or visceral involvement

Congenital primary megaureter

Congenital primary megalo-ureter