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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Autosomal recessive centronuclear myopathy
X-linked epilepsy - learning disabilities - behavior disorders

BIN1 SYN1
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BIN1
(0.74)
SYN1



Citations in the biomedical literature:


Autosomal recessive centronuclear myopathy
BIN1 TTN
X-linked epilepsy - learning disabilities - behavior disorders
SYN1



Autosomal recessive centronuclear myopathy
X-linked epilepsy - learning disabilities - behavior disorders

Synonym(s):
- AR-CNM

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive

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

X-linked epilepsy - learning disabilities - behavior disorders

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- X-linked recessive inheritance



Autosomal recessive centronuclear myopathy

(no data available)