ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1

4 OMIM references -
3 associated genes
No signs/symptoms info

Lethal ataxia with deafness and optic atrophy

X-linked nonsyndromic sensorineural deafness type DFN

Citations in the biomedical literature:

Lethal ataxia with deafness and optic atrophy		X-linked nonsyndromic sensorineural deafness type DFN
	Synonym(s): - Arts syndrome		Synonym(s): - X-linked isolated neurosensory deafness type DFN - X-linked isolated neurosensory hearing loss type DFN - X-linked isolated sensorineural deafness type DFN - X-linked isolated sensorineural hearing loss type DFN - X-linked nonsyndromic neurosensory deafness type DFN - X-linked nonsyndromic neurosensory hearing loss type DFN - X-linked nonsyndromic sensorineural hearing loss type DFN

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the ear and mastoid process -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references

Lethal ataxia with deafness and optic atrophy
	Very frequent - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Death in infancy - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia Frequent - Muscle weakness / flaccidity - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Pancreatic fibrosis
X-linked nonsyndromic sensorineural deafness type DFN
(no data available)