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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-03-2011
Symbol AP4DS
Location 15q15.2
Name AP-4 deficiency syndrome
Corresponding gene AP4E1
Other symbol(s) CPSQ4
Main clinical features
  • spastic tetraplegic cerebral palsy with profound intellectual disability, mental retardation, microcephaly, epilepsy and white matter loss
  • hyperreflexia, spastic paraplegia, and an inability to walk unaided with severe cognitive deficit, marked speech delay, and adaptive impairment (PMID: 21620353))
  • high palate, mildly remarkable facial gestalt with a wide nasal bridge, short stature, hyperlaxity, genu recurvatum, pes planus
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
      deletion   homozygous deletion identified by chromosomal microarray analysis.