ODCs

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7 OMIM references -
6 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Aicardi-GoutiÃ¨res syndrome

Autosomal recessive limb-girdle muscular dystrophy type 2B


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SAMHD1	(0.63)	DYSF

Citations in the biomedical literature:

Aicardi-GoutiÃ¨res syndrome		Autosomal recessive limb-girdle muscular dystrophy type 2B
	Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid		Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - 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: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 7 OMIM references - 1 MeSH reference: C535607		External references: 1 OMIM reference - No MeSH references

Aicardi-GoutiÃ¨res syndrome
	Very frequent - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Porencephaly Frequent - Coloboma of the eyelid - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Microcephaly - Plagiocephaly - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus
Autosomal recessive limb-girdle muscular dystrophy type 2B
(no data available)