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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Autosomal dominant childhood-onset cortical cataract
Retinopathy - anemia- central nervous system anomalies

CRYGS TINF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CRYGS
(0.63)
TINF2



Citations in the biomedical literature:


Autosomal dominant childhood-onset cortical cataract
CRYGS
Retinopathy - anemia- central nervous system anomalies
TINF2



Autosomal dominant childhood-onset cortical cataract
Retinopathy - anemia- central nervous system anomalies

Synonym(s):
- Autosomal dominant childhood-onset progressive cortical cataract

Synonym(s):
- Revesz-DeBuse syndrome

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
(no data available)

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

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

Retinopathy - anemia- central nervous system anomalies

Very frequent
- Anaemia
- Anomalies of tongue, gingiva and oral mucosa
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Fine hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intrauterine growth retardation
- Microcephaly
- Nails anomalies
- Platelets shape anomalies
- Polynuclear cells / neutrophils anomalies / neutropenia
- Prematurity
- Purpura / petichiae
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Thrombocytopenia / thrombopenia



Autosomal dominant childhood-onset cortical cataract

(no data available)