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Severe intellectual deficit and progressive spastic paraplegia
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Epileptic encephalopathy with continuous spike-and-wave during sleep
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe intellectual deficit and progressive spastic paraplegia
Epileptic encephalopathy with continuous spike-and-wave during sleep

AP4B1
(UniProt - OMIM)
 GRIN2A
(UniProt - OMIM)
AP4E1
(UniProt - OMIM)
AP4M1
(UniProt - OMIM)
AP4S1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AP4M1
(0.63)
GRIN2A


Citations in the biomedical literature:


Severe intellectual deficit and progressive spastic paraplegia
AP4B1 AP4E1 AP4M1 AP4S1
Epileptic encephalopathy with continuous spike-and-wave during sleep
GRIN2A



Severe intellectual deficit and progressive spastic paraplegia
Epileptic encephalopathy with continuous spike-and-wave during sleep

Synonym(s):
- AP4 deficiency syndrome
Synonym(s):
- CSWSS syndrome
- ESES
- Electrical status epilepticus during slow sleep
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Mental and behavioural disorders -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.