Condition: Sleep disturbances


rs1555743003 in ASXL3 gene and Sleep disturbances PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs1135401778 in BPTF gene and Sleep disturbances PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1554389088 in CAMK2B gene and Sleep disturbances PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1057524157 in DEAF1 gene and Sleep disturbances PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs1555883505 in EEF1A2 gene and Sleep disturbances PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1057521721 in GRIA3 gene and Sleep disturbances PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

rs1557043622 in SLC35A2 gene and Sleep disturbances PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.