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Aniridia-renal agenesis-psychomotor retardation syndrome

Disease definition

An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

ORPHA:1064

Classification level: Disorder
  • Synonym(s):
    • Sommer-Rathbun-Battles syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 206750
  • UMLS: C1859782
  • MeSH: C536371
  • GARD: 690
  • MedDRA: -

Detailed information

Professionals

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