ODCs

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

COMMON GENES: 1

1 OMIM reference -
2 associated genes
4 signs/symptoms

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Isolated anencephaly/exencephaly

MTHFR	(UniProt - OMIM)		MTHFR	(UniProt - OMIM)
			VANGL2	(UniProt - OMIM)

Citations in the biomedical literature:

Homocystinuria due to methylene tetrahydrofolate reductase deficiency		Isolated anencephaly/exencephaly
	Synonym(s): - MTHFR deficiency - Methylene tetrahydrofolate reductase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Isolated anencephaly/exencephaly
	Very frequent - Anencephaly / acrania - Cortico-adrenal hypoplasia / insufficiency - Stillbirth / neonatal death Occasional - Autosomal recessive inheritance
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
(no data available)