Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 Biomarker group BEFREE This finding is challenging regarding a possible causative role of WHSC1 in intellectual disability syndromes, specifically Wolf-Hirschhorn syndrome. 29760529 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 Biomarker group GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 Biomarker group BEFREE The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. 18229657 2007