Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 CausalMutation CLINVAR Lessons learned from additional research analyses of unsolved clinical exome cases. 28327206 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Hirsutism
CUI: C0019572
Disease: Hirsutism
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
0.700 CausalMutation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR