MAB21L1, mab-21 like 1, 4081

N. diseases: 35; N. variants: 0
Disease: Neurodevelopmental Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome). 30487245 2019