Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Query: UMLS:C0020440 (
hypercapnia
)
7,939
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This study examines the neuropsychological profile of a boy with congenital central hypoventilation syndrome (CCHS) without a paired-like homeobox gene (PHOX2B) mutation. CCHS is a rare disorder of autonomic nervous system development characterized by an impaired ventilatory response to
hypercarbia
and hypoxemia. Mild intellectual deficits are common but a specific cognitive profile is not established in CCHS. We describe a nonverbal
learning disorder
as a CCHS endophenotype and recommend that detailed neuropsychological testing be performed on all individuals with CCHS. Defining the psycho-educational needs in CCHS may avert compounding the emotional and medical stresses of this already debilitating disorder.
...
PMID:A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation. 1981 16
