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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Lissencephaly type 1 due to doublecortin gene mutation
Pancytopenia due to IKZF1 mutations

DCX IKZF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DCX
(0.63)
IKZF1



Citations in the biomedical literature:


Lissencephaly type 1 due to doublecortin gene mutation
DCX
Pancytopenia due to IKZF1 mutations
IKZF1



Lissencephaly type 1 due to doublecortin gene mutation
Pancytopenia due to IKZF1 mutations

Synonym(s):
- X-linked lissencephaly type 1

Synonym(s):
- CID due to ikaros deficiency
- Combined immunodeficiency due to ikaros deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: no data available
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)

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

Lissencephaly type 1 due to doublecortin gene mutation

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia



Pancytopenia due to IKZF1 mutations

(no data available)