Charcot-Marie-Tooth disease type 4E (Q27677657)
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Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23
- Neuropathy, Congenital Hypomyelinating, Autosomal Dominant
- NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE
- Hypomyelination, Severe Congenital
- CMT4E
- Autosomal recessive congenital hypomyelinating neuropathy
- CHN
- Congenital hypomyelination neuropathy
- Charcot-Marie-Tooth Disease, Type 4E
- autosomal recessive congenital hypomyelinating or amyelinating neuropathy
- Neuropathy, congenital hypomyelinating, 1
- NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE; CHN
- Charcot-Marie-Tooth neuropathy type 4E
- Charcot-Marie-Tooth Neuropathy, Type 4E
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Charcot-Marie-Tooth disease type 4E |
Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23 |
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