Van Maldergem syndrome 1

A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.

Van Maldergem syndrome 2

A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.

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.

Brown-Vialetto-Van Laere syndrome 1

A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.

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.