CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Autistic behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.010 Biomarker disease BEFREE We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome. 19896112 2009