Rare Disease Library

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

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

Cataract-congenital heart disease-neural tube defect syndrome

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome

Congenital and infantile nephrotic syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

Joubert syndrome with hepatic defect

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

Kousseff syndrome

Sacral meningocele-conotruncal heart defects syndrome

Lung agenesis-heart defect-thumb anomalies syndrome

Mardini-Nyhan syndrome

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

Pancreatic agenesis-holoprosencephaly syndrome

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

Shoulder and thorax deformity-congenital heart disease syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome