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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Microcephalic primordial dwarfism due to ZNF335 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive primary microcephaly
Microcephalic primordial dwarfism due to ZNF335 deficiency

ASPM
(UniProt - OMIM)
 ZNF335
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
CDK6
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP135
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
CEP63
(UniProt - OMIM)
MCPH1
(UniProt - OMIM)
PHC1
(UniProt - OMIM)
STIL
(UniProt - OMIM)
WDR62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDK6
(0.7)
ZNF335


Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Microcephalic primordial dwarfism due to ZNF335 deficiency
ZNF335



Autosomal recessive primary microcephaly
Microcephalic primordial dwarfism due to ZNF335 deficiency

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- Microcephalic primordial dwarfism, Walsh type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.