EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

समान संसाधन

• A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
  द्वारा: Alhamoudi, Kheloud M., और अन्य
  प्रकाशित: (2020)
• Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
  द्वारा: Asiri, Abdulaziz, और अन्य
  प्रकाशित: (2020)
• Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
  द्वारा: Alfadhel, Majid, और अन्य
  प्रकाशित: (2021)
• Combining lexical and context features for automatic ontology extension
  द्वारा: Althubaiti, Sara, और अन्य
  प्रकाशित: (2020)
• A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
  द्वारा: Alhamoudi, Kheloud M., और अन्य
  प्रकाशित: (2021)