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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Congenital glaucoma
Hereditary sensorimotor neuropathy with hyperelastic skin

CYP1B1 FBLN5
LTBP2
MYOC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LTBP2
(0.7)
FBLN5



Citations in the biomedical literature:


Congenital glaucoma
CYP1B1 LTBP2 MYOC
Hereditary sensorimotor neuropathy with hyperelastic skin
FBLN5



Congenital glaucoma
Hereditary sensorimotor neuropathy with hyperelastic skin

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.