ODCs

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

PROTEIN INTERACTIONS: 1

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

Severe neonatal-onset encephalopathy with microcephaly

Acatalasemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.49)	CAT

Citations in the biomedical literature:

Severe neonatal-onset encephalopathy with microcephaly		Acatalasemia
	Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation		Synonym(s): - Catalase deficiency

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-9 / 100 000 Average age onset: variable 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

No signs/symptoms info available.