Li-Fraumeni syndrome 2

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.

Li-Fraumeni syndrome 1

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.

Bryant-Li-Bhoj neurodevelopmental syndrome 1

A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.

Bryant-Li-Bhoj neurodevelopmental syndrome 2

A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25.

psoriasis 1

A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33.

COX deficiency, benign infantile mitochondrial myopathy

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

COX deficiency, infantile mitochondrial myopathy

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Charcot-Marie-Tooth disease type 2B1

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

mitochondrial complex IV deficiency nuclear type 23

A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.

hypertrophic cardiomyopathy 4

A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.