Sweeney-Cox syndrome

A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.

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.

French Canadian Leigh disease

A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.

mitochondrial complex IV deficiency nuclear type 10

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12.

mitochondrial complex IV deficiency nuclear type 12

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.

mitochondrial complex IV deficiency nuclear type 9

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.

mitochondrial complex IV deficiency nuclear type 11

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.

mitochondrial complex IV deficiency nuclear type 20

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.