Rare Diseases Symptoms Automatic Extraction

Unmasking Kabuki syndrome.

[kabuki syndrome]

The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotype-phenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS.

Diseases presenting "intellectual disability" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • child syndrome
  • cohen syndrome
  • cowden syndrome
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • monosomy 21
  • oculocutaneous albinism
  • oligodontia
  • phenylketonuria
  • proteus syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated