ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
24 signs/symptoms

Autosomal recessive spastic paraplegia type 20

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SPG20	(0.72)	ACSL4

Citations in the biomedical literature:

Autosomal recessive spastic paraplegia type 20		Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
	Synonym(s): - Childhood-onset spastic paraparesis - distal muscle wasting - SPG20 - Troyer syndrome		Synonym(s): - AMME complex - AMME syndrome - ATS-MR

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - 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: x-linked recessive

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

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
	Very frequent - Anteverted nares / nostrils - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hair and scalp anomalies - Hematuria / microhematuria - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface - Proteinuria - Renal glomerular defect / glomerulopathy - X-linked dominant inheritance Frequent - Hearing loss / hypoacusia / deafness - Hypotonia - Red cell structure / shape anomalies - Renal failure - Tapered fingers - Thick lips - Thin / retracted lips Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Metaphyseal anomaly - Myopia - Patent ductus arteriosus - Strabismus / squint - Supernumerary teeth / polyodontia
Autosomal recessive spastic paraplegia type 20
(no data available)