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5 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Periventricular nodular heterotopia
Charcot-Marie-Tooth disease type 2B1

ARFGEF2 LMNA
ERMARD
FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.73)
LMNA



Citations in the biomedical literature:


Periventricular nodular heterotopia
ARFGEF2 ERMARD FLNA
Charcot-Marie-Tooth disease type 2B1
LMNA



Periventricular nodular heterotopia
Charcot-Marie-Tooth disease type 2B1

Synonym(s):
(no synonyms)

Synonym(s):
- AR-CMT2B1
- Autosomal recessive Charcot-Marie-Tooth disease type 2B1
- Autosomal recessive axonal CMT4C1

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
1 MeSH reference: D054091
External references:
1 OMIM reference -
1 MeSH reference: C537990

No signs/symptoms info available.