Rare Disease Library

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG syndrome

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

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

Hydrocephaly-cerebellar agenesis syndrome

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

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

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Bonnemann-Meinecke syndrome

Porencephaly-microcephaly-bilateral congenital cataract syndrome

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

TARP syndrome

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

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome