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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-03-2019
Symbol LAMSHF
Location 12p12.1
Name Lamb-Shaffer syndrome
Corresponding gene SOX5
Main clinical features
  • neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, mild motor impairment, and mild dysmorphic facial features, behavior abnormalities
  • speech delay and dysmorphisms such as strabismus, frontal bossing, ear abnormalities, and low nasal bridge
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    ear
    Type disease
    Remark(s)