Identification of a novel FOXP1 variant in a patient with hypotonia, intellectual disability and severe speech impairment

ABSTRACT: A female patient with neurodevelopmental disorder, craniofacial dysmorphisms carrying a novel heterozygous FOXP1 variant, c.1030C>T, p.(Gln344Ter). This variant was not found in the parents, which was consistent with de novo inheritance.

INSTRUMENT(S): NextSeq 500

ORGANISM(S): Homo sapiens

SUBMITTER: Orazio Palumbo 

PROVIDER: E-MTAB-13190 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress