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Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Marked gene: KBTBD2 as ready
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Gene: kbtbd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Classified gene: KBTBD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Gene: kbtbd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6429 KBTBD2 Zornitza Stark gene: KBTBD2 was added
gene: KBTBD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related
Review for gene: KBTBD2 was set to GREEN
Added comment: 3 families - 2 compound hets and 1 hom

phenotypes include:
Microcephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism
Sources: Literature