Biallelic Variant in SLC6A17 in a Pakistani Family With Autosomal Recessive Intellectual Disability.

Abstract excerpt

Autosomal recessive intellectual disability affects 1%-3% of the general population and is a major concern in countries where consanguineous marriages are common. Mental retardation autosomal recessive 48 (MRT 48) (OMIM 616269) is a recessive syndromic disorder characterized by progressive tremors, speech impairment, and behavioral problems. In the present study, we highlight a family with a case of MRT 48. The...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Consanguinity
• Share to Exome Sequencing
• Share to Genes, Recessive