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1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Intellectual deficit, X-linked - psychosis - macroorchidism
Familial rhabdoid tumor

MECP2 SMARCA4
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MECP2
(0.92)
SMARCB1



Citations in the biomedical literature:


Intellectual deficit, X-linked - psychosis - macroorchidism
MECP2
Familial rhabdoid tumor
SMARCA4 SMARCB1



Intellectual deficit, X-linked - psychosis - macroorchidism
Familial rhabdoid tumor

Synonym(s):
- Lindsay-Burn syndrome
- PPM-X

Synonym(s):
- RTPS
- Rhabdoid tumor predisposition syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Intellectual deficit, X-linked - psychosis - macroorchidism

Very frequent
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance

Frequent
- Abnormal gait
- EEG anomalies
- Long / large ear
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Psychic / psychomotor regression / dementia / intellectual decline
- Scoliosis
- Structural anomalies of the cardio-circulatory system


Familial rhabdoid tumor

(no data available)