SHROOM4, shroom family member 4, 57477

N. diseases: 42; N. variants: 4
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease BEFREE Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID critical region associated with mild to severe ID, speech delay +/- dysarthria, attention deficit disorder, precocious puberty, constipation, and motor delay. 26692240 2016
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO