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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Familial cortical myoclonus
Microcephaly - seizures - developmental delay

NOL3 PNKP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NOL3
(0.76)
PNKP



Citations in the biomedical literature:


Familial cortical myoclonus
NOL3
Microcephaly - seizures - developmental delay
PNKP



Familial cortical myoclonus
Microcephaly - seizures - developmental delay

Synonym(s):
(no synonyms)

Synonym(s):
- MCSZ

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

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

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

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

Microcephaly - seizures - developmental delay

Very frequent
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Hyperactivity / attention deficit
- Psychic / behavioural troubles



Familial cortical myoclonus

(no data available)