ODCs

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

COMMON GENES: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

X-linked nonsyndromic sensorineural deafness type DFN

Phosphoribosylpyrophosphate synthetase superactivity

Citations in the biomedical literature:

X-linked nonsyndromic sensorineural deafness type DFN		Phosphoribosylpyrophosphate synthetase superactivity
	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		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease - Rare renal disease

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

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

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

Phosphoribosylpyrophosphate synthetase superactivity
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Hyperuricemia - Sensorineural deafness / hearing loss - X-linked recessive inheritance Frequent - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Renal failure - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiomyopathy / hypertrophic / dilated - Chronic arterial hypertension - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Strabismus / squint
X-linked nonsyndromic sensorineural deafness type DFN
(no data available)