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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated delta-storage pool disease
2 associated genes
No signs/symptoms info
Autosomal recessive primary microcephaly
Isolated delta-storage pool disease

ASPM
(UniProt - OMIM)
 FLI1
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
 RUNX1
(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
(0.73)
RUNX1


Citations in the biomedical literature:


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

Isolated delta-storage pool disease
FLI1 RUNX1



Autosomal recessive primary microcephaly
Isolated delta-storage pool disease

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
11 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.