Rare Diseases Symptoms Automatic Extraction

Phenotypic heterogeneity in AAAS gene mutation.

[triple a syndrome]

We report the cases of two sibs of North African origin with AAAS gene mutation characterized by the heterogeneity of their phenotype. While an 8-y-old boy presented with acute adrenal insufficiency and mental retardation, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure.Our observations corroborate the phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.

Diseases presenting "mental retardation" symptom

  • achondroplasia
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cystinuria
  • dentin dysplasia
  • familial hypocalciuric hypercalcemia
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • monosomy 21
  • phenylketonuria
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated