Condition: Hypotonia, speech impairment, severe cognitive delay syndrome
rs767633598
in
UNC80
gene and
Hypotonia, speech impairment, severe cognitive delay syndrome
PMID 26708753
2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
PMID 26708751
2016 Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.