Rare Disease Library

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

Cloverleaf skull-multiple congenital anomalies 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 vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

Lung agenesis-heart defect-thumb anomalies syndrome

Mardini-Nyhan syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Multiple congenital anomalies/dysmorphic syndrome

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno 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