Condition: Absent speech
rs587779388 in
AP4B1;AP4B1-AS1 gene and
Absent speech
PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
rs1555743003 in
ASXL3 gene and
Absent speech
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1554333853 in
CDK13 gene and
Absent speech
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs1057519565 in
DEAF1 gene and
Absent speech
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.
rs1554817910 in
ZMIZ1 gene and
Absent speech
PMID 30639322 2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.