Table 2.

Features of SPTBN4 Disorder

Feature# of Persons w/FeatureComment
Congenital hypotonia14/14 (100%)
Neuromuscular weakness14/14 (100%)1 affected person reported w/some ambulation 1
Areflexia/Neuropathy13/14 (93%)
Developmental delay / Intellectual disability13/14 (93%)
  • Typically severe to profound
  • 1 affected person reported w/normal cognitive development & 1 w/mild gross motor & speech delay at age 2 yrs 5 mos 1
Feeding difficulties9/14 (64%)
Respiratory difficulties8/14 (57%)
Visual impairment6/14 (43%)
Joint contractures5/14 (36%)
  • Time of onset variable
  • Congenital arthrogryposis in at least 2 persons
  • Progressive spasticity & contractures also observed in at least 2 persons [Wang et al 2018]
Seizures5/14 (36%)
Hearing loss4/14 (29%)Typically due to an auditory neuropathy

In most reports the phenotypic details were limited and pertinent negatives were often not provided. Therefore, the number of individuals with a specific clinical feature likely represents a minimum proportion.

1.

From: SPTBN4 Disorder

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