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Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Disease definition

A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.

ORPHA:500545

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: F84.8
  • OMIM: 617393
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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