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1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Microcephaly - seizures - developmental delay
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

PNKP APP


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
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
APP



Microcephaly - seizures - developmental delay
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Synonym(s):
- MCSZ

Synonym(s):
- HCHWA, Iowa type

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

Classification (ICD10):
(no data available)
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: autosomal recessive
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Psychic / behavioural troubles


Microcephaly - seizures - developmental delay
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

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

Frequent
- Hyperactivity / attention deficit



Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia