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. 2022 Oct 31;146(5):2003–2015. doi: 10.1093/brain/awac391
Core Features (HPO Annotation) Prevalence
Gait disturbance HP:0001288 92% (84/91)

Spasticity HP:0001257

  • Spastic diplegia HP:0001264

  • Abnormal pyramidal sign HP:0007256

78% (85/109)
88% (100/114)
Delayed speech and language development HP:0000750 25% (25/101)
Cognitive impairment HP:0100543 72% (74/103)
Mental deterioration HP:0001268 40% (40/100)
Ataxia HP:0001251 30% (33/109)
Thin corpus callosum HP:0033725 70% (69/98)
‘Ears of the lynx’ sign 28% (24/86)