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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Burkitt lymphoma
X-linked intellectual deficit - cerebellar hypoplasia

MYC OPHN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MYC
(0.63)
OPHN1



Citations in the biomedical literature:


Burkitt lymphoma
MYC
X-linked intellectual deficit - cerebellar hypoplasia
OPHN1



Burkitt lymphoma
X-linked intellectual deficit - cerebellar hypoplasia

Synonym(s):
- Small non-cleaved cell lymphoma

Synonym(s):
- OPHN1 syndrome
- Oligophrenin-1 syndrome

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
2 MeSH references: D002051 / D008228
External references:
1 OMIM reference -
No MeSH references

X-linked intellectual deficit - cerebellar hypoplasia

Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Facial dysmorphism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Motor deficit / trouble
- X-linked dominant inheritance

Frequent
- Autism / autistic disoders
- Hyperactivity / attention deficit
- Hypotonia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint

Occasional
- Anomalies of mouth, lip and philtrum
- Ataxia / incoordination / trouble of the equilibrium
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Deepset eyes / enophthalmos
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- Long face
- Long / large ear
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Burkitt lymphoma

(no data available)