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PedAM

Pediatric Disease Annotations & Medicines




Disease intellectual disability
Phenotype C0007789|cerebral palsy
Sentences 5
PubMedID- 20972249 Methods and results: this report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving ap4e1, one of the four subunits of the adaptor protein complex-4 (ap-4), identified by chromosomal microarray analysis.
PubMedID- 21620353 Interestingly, two mutations affecting ap4m1 and ap4e1 have recently been found to cause cerebral palsy associated with severe intellectual disability.
PubMedID- 24773274 Aim: the aim of this study was to determine the developmental trajectories of expressive (speech) and receptive (spoken and written language) communication by type of motor disorder and intellectual disability in individuals with cerebral palsy (cp).
PubMedID- 26093514 All of them had a severe/profound intellectual disability associated with cerebral palsy.
PubMedID- 25981959 However, there have been no previous reports specifically investigating the association of intellectual disability with ataxic cerebral palsy, and the rate of intellectual disability is higher than might be expected from the overall prevalence rate in cerebral palsy.

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