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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
17q11 microdeletion syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita

NF1 SYNE1
RNF135
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SUZ12
(0.63)
SYNE1



Citations in the biomedical literature:


17q11 microdeletion syndrome
NF1 RNF135 SUZ12
Autosomal recessive myogenic arthrogryposis multiplex congenita
SYNE1



17q11 microdeletion syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita

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

Synonym(s):
- Autosomal recessive myogenic AMC
- SYNE1-related AMC
- SYNE1-related arthrogryposis multiplex congenita

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):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

No signs/symptoms info available.