Cytoscape Web
Click node...

Severe early-onset axonal neuropathy due to NEFL deficiency
1 associated gene
31 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Isolated focal cortical dysplasia type IIb
Lymphangioleiomyomatosis
Tuberous sclerosis
Pulverulent cataract
Charcot-Marie-Tooth disease type 4B1
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Craniometaphyseal dysplasia
Distal hereditary motor neuropathy type 2
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hypoplastic left heart syndrome
Oculodentodigital dysplasia
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Syndactyly type 3
Young adult-onset Parkinsonism
Griscelli disease type 1
Griscelli disease type 3
Neuroectodermal melanolysosomal disease
Amyotrophic lateral sclerosis
Synonym(s):
- Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
NEFL P07196162280
No signs/symptoms info available.