ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Ataxia - hypogonadism - choroidal dystrophy

Autosomal recessive spastic paraplegia type 39

Citations in the biomedical literature:

Ataxia - hypogonadism - choroidal dystrophy		Autosomal recessive spastic paraplegia type 39
	Synonym(s): - Boucher-NeuhÃ¤user syndrome		Synonym(s): - SPG39 - Spastic paraplegia due to NTE mutation - Spastic paraplegia due to neuropathy target esterase mutation

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

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

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

Ataxia - hypogonadism - choroidal dystrophy
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Late puberty / hypogonadism / hypogenitalism - Retinitis pigmentosa / retinal pigmentary changes
Autosomal recessive spastic paraplegia type 39
(no data available)