Table 1

Clinical features of affected males in K8255

Clinical featuresPatientsTotal (n=16)
No (%)
II.4II.5III.2III.3III.5III.6IV.51-151IV.6IV.10IV.11IV.12V.2V.31-151V.41-151V.7V.111-151
CNS features
 Profound MR++++++++++++++++16/16 (100)
 MicrocephalyNKNKNKNKNKNK+NKNKNKNKNK++NK−3/4 (75)
 Mutism++++++++++++++++16/16 (100)
 IncontinenceNKNK++++++++++++++14/14 (100)
 EpilepsyNKNK++++++++++++++14/14 (100)
 OphthalmoplegiaNKNKNKNKNKNK+NKNKNKNKNKNK+NK+3/3 (100)
 SquintNKNKNKNK+++NKNKNKNKNK++NK+6/6 (100)
 Truncal ataxiaNKNKNKNKNKNK+NKNKNKNKNKNK+NK+3/3 (100)
 Non-ambulatory−+−−−+−−−+++−−++7/16 (43.75)
 Late ambulation+−+++−+++−−−++−−9/16 (56.25)
 Adducted thumbs++NKNK++−NKNKNKNKNK−+NK−5/8 (62.5)
Craniofacial features
 Long, narrow faceNKNKNKNK+1-150 NK+NKNKNKNKNK++NK+5/5 (100)
 Large earsNKNKNKNK+1-150 NK+NKNK+1-150 +1-150 NK++NK+7/7 (100)
 Square, prognathic jawNKNKNKNK+1-150 NK+NKNKNKNKNK++NK+5/5 (100)
 Long, aquiline noseNKNKNKNK+1-150 NK+NKNKNKNKNK++NK+5/5 (100)
Muculoskeletal system
 Decreased muscle bulkNKNKNKNK+1-150 NK+NKNKNKNKNK++NK+5/5 (100)
 ContracturesNKNKNKNKNKNK+NKNKNK+NK++NK−4/5 (80)
 Long fingers/toesNKNKNKNK+1-150 NK+NKNK+1-150 +1-150 NK++NK+7/7 (100)
 Narrow chestNKNKNKNKNKNK+NKNKNKNKNK++NK+4/4 (100)
Age of death (y)NKNK5183930+A1555151724A15A

  • +Clinical feature present.

  • ↵1-150 From photographs.

  • ↵1-151 Patients examined.

  • A = patients alive. NK = not known.