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Developmental delay with autism spectrum disorder and gait instability

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Description

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

48

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Genes

External Links

  • OMIM

    615516

  • Orphanet

    329195

  • HPO
  • Medgen

    C3809753

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