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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease intellectual disability
Comorbidity C0004134|ataxia
Sentences 5
PubMedID- 25099823 Angelman syndrome (as) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness.
PubMedID- 26157035 A homozygous mutation of vwa3b causes cerebellar ataxia with intellectual disability.
PubMedID- 26095287 The causes of hh included hypopituitarism (n = 3), prader-willi syndrome, chromosomal aberration, intellectual disability syndrome with ataxia, and idiopathic causes (n = 2).
PubMedID- 25751627 Initially normal psychomotor development slowed after seizure onset, resulting in mild-moderate intellectual disability associated with mild-moderate ataxia and continuous myoclonus in some cases.
PubMedID- 26189493 The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity.

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