syndrome syndrome syndrome/ microcephalic primordial dwarfism/ Harper’s syndrome/ Virchow-Seckel dwarfism syndrome syndrome syndrome 9 sclerosis syndrome syndrome Conditions primarily resulting in Neurological impairment Systemic atrophies primarily affecting the central nervous system: ataxia spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11 syndrome/ Ataxia-telangiectasia disease (Types A and C) bulbar palsy of childhood/ Fazio-Londe disease The following spinal muscular atrophies: muscular atrophy Type I/ Werdnig Hoffmann disease/ infantile SMA muscular atrophy Type II/ Dubowitz disease muscular atrophy Type III Kugelberg-Welander disease/ juvenile SMA muscular atrophy lower extremity dominant/ SMA-LED spinal muscular atrophy Extrapyramidal and movement disorders: syndrome / Pantothenate kinase-associated neurodegeneration (PKAN)/ neurodegeneration with brain iron accumulation 1 (NBIA 1) Other degenerative diseases of the nervous system: disease/ Alpers syndrome/ Grey-matter degeneration/ Progressive sclerosing poliodystrophy/ Progressive infantile poliodystrophy Demyelinating diseases of the central nervous system / X-linked childhood cerebral form disease disease disease/ Globoid cell leukodystrophy disease Episodic and paroxysmal disorders syndrome/ Lennox syndrome syndrome Polyneuropathies and other disorders of the peripheral nervous system disease/ Dejerine-Sottas syndrome/ Dejerine-Sottas neuropathy/ progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy Refsum disease
syndrome syndrome syndrome/ microcephalic primordial dwarfism/ Harper’s syndrome/ Virchow-Seckel dwarfism syndrome syndrome syndrome 9 sclerosis syndrome syndrome Conditions primarily resulting in Neurological impairment Systemic atrophies primarily affecting the central nervous system: ataxia spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11 syndrome/ Ataxia-telangiectasia disease (Types A and C) bulbar palsy of childhood/ Fazio-Londe disease The following spinal muscular atrophies: muscular atrophy Type I/ Werdnig Hoffmann disease/ infantile SMA muscular atrophy Type II/ Dubowitz disease muscular atrophy Type III Kugelberg-Welander disease/ juvenile SMA muscular atrophy lower extremity dominant/ SMA-LED spinal muscular atrophy Extrapyramidal and movement disorders: syndrome / Pantothenate kinase-associated neurodegeneration (PKAN)/ neurodegeneration with brain iron accumulation 1 (NBIA 1) Other degenerative diseases of the nervous system: disease/ Alpers syndrome/ Grey-matter degeneration/ Progressive sclerosing poliodystrophy/ Progressive infantile poliodystrophy Demyelinating diseases of the central nervous system / X-linked childhood cerebral form disease disease disease/ Globoid cell leukodystrophy disease Episodic and paroxysmal disorders syndrome/ Lennox syndrome syndrome Polyneuropathies and other disorders of the peripheral nervous system disease/ Dejerine-Sottas syndrome/ Dejerine-Sottas neuropathy/ progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy Refsum disease
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