Syndromes affecting hearing

monogenic disease characterized by glomerulonephritis, endstage kidney disease, and hearing loss

genetic condition involving hearing loss and depigmentation

syndrome characterized by a combination of hearing loss and visual impairment

rare disease

spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age

syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina

Human disease

rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)

mitochondrial disease

genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase

a rare vasculitis of children and young adults characterized by nonsyphilitic interstitial keratitis of cornea, fever and fatigue.

characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14

autosomal dominant genetic disorder involving the kidneys, ears, and neck

autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)

medical condition

Human disease

human disease

lysosomal storage disease

Human disease

mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems

genetic disorder

medical condition

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism

human disease

medical condition

medical condition

acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children

rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities