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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Charcot-Marie-Tooth disease type 2H
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

GDAP1 GDAP1


COMMON
GENES
GDAP1



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 2H
GDAP1
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness



Charcot-Marie-Tooth disease type 2H
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Synonym(s):
- AR-CMT2C
- Autosomal recessive axonal CMT4C2
- Axonal Charcot-Marie-Tooth disease with pyramidal involvement

Synonym(s):
- ARCMT2K
- Autosomal recessive axonal CMT4C4
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535415
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.