All individuals with variants in gene SEPT4

3 entries on 1 page. Showing entries 1 - 3.
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00017613 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F yes Italy - - - - - NBIA1 birth weight: 3,850 g; No history of perinatal complications;Normal early developmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ΒΌ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs 1 1 Marianne Vos (LOVD-team)
00413321 - - - - - China - - - - - SPGF - 1 1 Rui Guo
00413420 - - - - - China - - - - - SPGF - 1 1 Rui Guo
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