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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
Microcephalic primordial dwarfism due to ZNF335 deficiency
Methylmalonic acidemia with homocystinuria, type cblX

ZNF335 HCFC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ZNF335
(0.63)
HCFC1



Citations in the biomedical literature:


Microcephalic primordial dwarfism due to ZNF335 deficiency
ZNF335
Methylmalonic acidemia with homocystinuria, type cblX
HCFC1



Microcephalic primordial dwarfism due to ZNF335 deficiency
Methylmalonic acidemia with homocystinuria, type cblX

Synonym(s):
- Microcephalic primordial dwarfism, Walsh type

Synonym(s):
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Methylmalonic aciduria with homocystinuria, type cblX

Classification (Orphanet):
- Rare bone disease
- 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):
- Congenital malformations, deformations and chromosomal abnormalities -
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: autosomal 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 -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.