Cornelia de Lange syndrome 3

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.

Cornelia de Lange syndrome 5

A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.

acute myeloid leukemia with mutated RUNX1

An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.

autosomal dominant intellectual developmental disorder 40

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.

Cornelia de Lange syndrome 6

A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.

Cornelia de Lange syndrome 1

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.

Cornelia de Lange syndrome 2

A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.

Cornelia de Lange syndrome 4

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.

Mowat-Wilson syndrome

A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.

long QT syndrome 8

A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.