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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
Progressive epilepsy - intellectual deficit, Finnish type

TUBB4A CLN8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.63)
CLN8



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
Progressive epilepsy - intellectual deficit, Finnish type
CLN8



Hypomyelination with atrophy of basal ganglia and cerebellum
Progressive epilepsy - intellectual deficit, Finnish type

Synonym(s):
- H-ABC

Synonym(s):
- CLN8 disease, Northern epilepsy variant
- NCL, Northern epilepsy variant
- Neuronal ceroid lipofuscinosis, Northern epilepsy variant
- Northern epilepsy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
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

Progressive epilepsy - intellectual deficit, Finnish type

Very frequent
- Autosomal recessive inheritance
- EEG anomalies
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Visual loss / blindness / amblyopia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychosis / schizophrenia / maniac disorder



Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)