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1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
4 associated genes
No signs/symptoms info
Microcephaly - seizures - developmental delay
Early-onset autosomal dominant Alzheimer disease

PNKP APP
PSEN1
PSEN2
SORL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PNKP
(0.56)
APP



Citations in the biomedical literature:


Microcephaly - seizures - developmental delay
PNKP
Early-onset autosomal dominant Alzheimer disease
APP PSEN1 PSEN2 SORL1



Microcephaly - seizures - developmental delay
Early-onset autosomal dominant Alzheimer disease

Synonym(s):
- MCSZ

Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

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



Early-onset autosomal dominant Alzheimer disease

(no data available)