Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary otorhinolaryngological disorders

Hereditary otorhinolaryngological disorders is a genetically and clinically heterogeneous group of disorders which consist of a manifastations in any of the otorhinolaryngological organs.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Aplasia of lacrimal and salivary glands
FGF10
CHARGE syndrome
CHD7
SEMA3E
TBX18
Hereditary deafness
Alport Syndrome
COL4A3
COL4A4
COL4A5
Autosomal recesive deafness 12
ATP2B2
CDH23
Autosomal recessive deafness 23
PCDH15
Autosomal recessive deafness 4 with enlarged vestibular aqueduct
SLC26A4
Enlarged vestibular aqueduct
FOXI1
Hereditary deafness 97
MET
IVIC syndrome
SALL4
MYH9 related disorders
Epstein syndrome
MYH9
Fechtner syndrome
MYH9
MYH9
Sebastian syndrome
MYH9
Stapes ankylosis with broad thumbs and toes
NOG
Usher syndrome
Usher syndrome 1D
CDH23
Usher syndrome 1D/F
CDH23
PCDH15
Usher syndrome 1F
PCDH15
X-linked non-syndromic sensorineural deafness type DFN
PRPS1
Lacrimoauriculodentodigital syndrome
FGF10
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension
Update: April 29, 2019