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Severe intellectual deficit and progressive spastic paraplegia
4 OMIM references -
4 associated genes
23 connected diseases
No signs/symptoms info
Disease Type of connection
Mosaic variegated aneuploidy syndrome
Congenital analbuminemia
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal dominant nonsyndromic intellectual deficit
Benign familial epilepsy of childhood with rolandic spikes
Burkitt lymphoma
Congenital deficiency in alpha-fetoprotein
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Epileptic encephalopathy with continuous spike-and-wave during sleep
Hereditary persistence of alpha-fetoprotein
Landau-Kleffner syndrome
Precursor T-cell acute lymphoblastic leukemia
Rolandic epilepsy - speech dyspraxia
West syndrome
Williams syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Glycogen storage disease due to LAMP-2 deficiency
Synonym(s):
- AP4 deficiency syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
AP4B1 Q9Y6B7607245
AP4E1 Q9UPM8607244
AP4M1 O00189602296
AP4S1 Q9Y587607243
No signs/symptoms info available.