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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
17q11 microdeletion syndrome
Early-onset spastic ataxia-neuropathy syndrome

NF1 AFG3L2
RNF135
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SUZ12
(0.63)
AFG3L2



Citations in the biomedical literature:


17q11 microdeletion syndrome
NF1 RNF135 SUZ12
Early-onset spastic ataxia-neuropathy syndrome
AFG3L2



17q11 microdeletion syndrome
Early-onset spastic ataxia-neuropathy syndrome

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Synonym(s):
- AFG3L2-associated spastic ataxia-neuropathy syndrome
- Autosomal recessive spastic ataxia type 5
- SPAX5

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.