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

Congenital brain dysgenesis due to glutamine synthetase deficiency

Atelosteogenesis type III


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLUL	(0.63)	FLNB

Citations in the biomedical literature:

Congenital brain dysgenesis due to glutamine synthetase deficiency		Atelosteogenesis type III
	Synonym(s): - Inherited GS deficiency - Inherited glutamine synthetase deficiency		Synonym(s): - AO3 - AOIII

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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

No signs/symptoms info available.