Disease: Hypotonia, speech impairment, severe cognitive delay syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4706556
Disease: Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome 		0.100 GeneticVariation disease CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753 2016
CUI: C4706556
Disease: Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome 		0.100 GeneticVariation disease CLINVAR Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. 26708751 2016