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Severe intellectual deficit and progressive spastic paraplegia
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital analbuminemia
1 associated gene
No signs/symptoms info
Severe intellectual deficit and progressive spastic paraplegia
Congenital analbuminemia

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AP4E1
(0.72)
ALB


Citations in the biomedical literature:


Severe intellectual deficit and progressive spastic paraplegia
AP4B1 AP4E1 AP4M1 AP4S1
Congenital analbuminemia
ALB



Severe intellectual deficit and progressive spastic paraplegia
Congenital analbuminemia

Synonym(s):
- AP4 deficiency syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.