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Charcot-Marie-Tooth disease type 2B2
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked non-syndromic intellectual deficit
Peripheral resistance to thyroid hormones
Acute promyelocytic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
X-linked intellectual deficit with marfanoid habitus
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to LCK deficiency
Autosomal dominant secondary polycythemia
Autosomal recessive nonsyndromic intellectual deficit
Estrogen resistance syndrome
Generalized resistance to thyroid hormone
Glucocorticoid resistance
Idiopathic pulmonary fibrosis
Multiple paragangliomas associated with polycythemia
Selective pituitary resistance to thyroid hormone
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Congenital cataracts - facial dysmorphism - neuropathy
Methylmalonic acidemia with homocystinuria, type cblX
Synonym(s):
- AR-CMT2B2
- Autosomal recessive axonal CMT4C3
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537991
Gene symbol UniProt reference OMIM reference
MED25 Q71SY5610197
No signs/symptoms info available.