TBC1D24-Related Disorders: Included Phenotypes 1

Autosomal recessive phenotypes
  • DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures)
  • Familial infantile myoclonic epilepsy (FIME)
  • Progressive myoclonic epilepsy (PME)
  • Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC)
  • Developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS)
  • Autosomal recessive nonsyndromic hearing loss (DFNB)
Autosomal dominant phenotype Autosomal dominant nonsyndromic hearing loss (DFNA)

For synonyms and outdated names see Nomenclature.

1.

For other genetic causes of these phenotypes see Differential Diagnosis.

From: TBC1D24-Related Disorders

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