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5 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Periventricular nodular heterotopia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ARFGEF2 ISG15
ERMARD
FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.63)
ISG15



Citations in the biomedical literature:


Periventricular nodular heterotopia
ARFGEF2 ERMARD FLNA
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Periventricular nodular heterotopia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 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: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
1 MeSH reference: D054091
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.