ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Intellectual deficit, X-linked, Siderius type

Methylmalonic acidemia with homocystinuria, type cblX


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHF8	(0.63)	HCFC1

Citations in the biomedical literature:

Intellectual deficit, X-linked, Siderius type		Methylmalonic acidemia with homocystinuria, type cblX
	Synonym(s): (no synonyms)		Synonym(s): - Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX - Methylmalonic aciduria with homocystinuria, type cblX

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic 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: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537333		External references: 1 OMIM reference - No MeSH references

Intellectual deficit, X-linked, Siderius type
	Very frequent - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Intellectual deficit / mental / psychomotor retardation / learning disability - Large hand - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Long face - X-linked dominant inheritance Frequent - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Low hair line (back) - Preaxial polydactyly (hand) - Scoliosis - Synophris / synophrys
Methylmalonic acidemia with homocystinuria, type cblX
(no data available)