Rare Disease Library

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

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

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Isolated congenital hepatic fibrosis

Isolated CHF

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

JBTS with JATD · Joubert syndrome with JATD

Joubert syndrome with ocular defect

JS-O · Joubert syndrome with retinopathy

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Joubert syndrome with renal defect

JS-R

Oley syndrome

Congenital hypotrichosis-milia syndrome

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome