LMBRD2

LMBR1 domain containing 2
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green LMBRD2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay with variable neurologic and brain abnormalities, MIM# 619694
  • Global developmental delay
  • Intellectual disability
  • Microcephaly
  • Seizures
  • Abnormality of nervous system morphology
  • Abnormality of the eye

Green LMBRD2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with variable neurologic and brain abnormalities, MIM# 619694
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Seizures
    • Abnormality of nervous system morphology
    • Abnormality of the eye

    Green LMBRD2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with variable neurologic and brain abnormalities, MIM# 619694
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Seizures
    • Abnormality of nervous system morphology
    • Abnormality of the eye