Conditions primarily resulting in intellectual or learning impairment
- Intellectual disability
- Pervasive developmental disorders not meeting severity criteria in List A or List C, such as autism
- Asperger syndrome
- Atypical autism
- Childhood autism.
Chromosomal abnormalities resulting in permanent impairment and not specified on List A
- Aicardi-Goutières syndrome
- CHARGE syndrome
- Cockayne syndrome Types I and Type II/Cerebro-oculo-faciao-skeletal (COFS) syndrome /Pena Shokeir syndrome Type II/Weber-Cockayne syndrome/Neill-Dingwall syndrome)
- Cohen syndrome
- Dandy-Walker syndrome
- DiGeorge syndrome /22q11.2 deletion syndrome/Velocardiofacial syndrome/ Shprintzen syndrome/Conotruncal anomaly face syndrome
- Down syndrome/Trisomy 21
- Fragile X syndrome
- Kabuki syndrome
- Menkes disease
- Prader-Willi syndrome
- Seckel syndrome /microcephalic primordial dwarfism/Harper’s syndrome/Virchow-Seckel dwarfism
- Smith-Lemli-Optiz syndrome
- Smith-Magenis syndrome
- Spinal muscular atrophy Types III and IV
- Sturge-Weber syndrome
- Trisomy 9
- Tuberous sclerosis
- Turner syndrome
- Williams syndrome
- Wolf-Hirschhorn syndrome.
Conditions primarily resulting in Neurological impairment
- Alzheimer’s dementia
- Creutzfeldt-Jakob disease
- HIV dementia
- Huntington’s disease
- Multi-infarct dementia
- Parkinson’s disease
- Post-polio syndrome
- Vascular dementia.
Systemic atrophies primarily affecting the central nervous system
- Abetalipoproteinaemia
- Adult-onset spinal muscular atrophy/late-onset SMA type III)
- Fazio-Londe disease/Progressive bulbar palsy of childhood
- Friedrich’s ataxia
- Hereditary spastic paraplegia/ Infantile-onset ascending hereditary spastic paralysis/ L1 syndrome/ spastic paraplegias types 2 and 11Huntington’s disease/Huntington’s chorea
- Louis-Bar syndrome/Ataxia-telangiectasia
- Motor neuron disease/Motor neurone disease/ Lou Gehrig’s disease /Amyotrophic lateral sclerosis
- Primary lateral sclerosis
- Progressive bulbar palsy
- Spinal muscular atrophy – all types
- Spinocerebellar Ataxia – all types, including Machado-Joseph disease.
Extrapyramidal and movement disorders
- Hallervorden-Spatz syndrome /Pantothenate kinase-associated neurodegeneration (PKAN)/neurodegeneration with brain iron accumulation 1 (NBIA 1)
- Parkinson’s disease
- Shy-Drager syndrome /Multiple System Atrophy /Striatonigral degeneration (MSA-P)/ Sporadic olivopontocerebellar atrophy (MSA-C)
- Steele-Richardson-Olszewski syndrome/Progressive supranuclear ophthalmoplegia
- Stiff-man syndrome /Stiff-person syndrome.
Other degenerative diseases of the nervous system
- Alzheimer’s disease
- Alpers disease/Grey-matter degeneration/Alpers syndrome/progressive sclerosing poliodystrophy/progressive infantile poliodystrophy
- Lewy body dementia
- Pick’s disease.
Demyelinating diseases of the central nervous system
- Adrenoleukodystrophy
- Multiple sclerosis
- Schilder’s disease /Diffuse myelinoclastic sclerosis – non-remitting.
Episodic and paroxysmal disorders
- Brain stem stroke syndrome
- Cerebellar stroke syndrome
- Motor and sensory lacunar syndromes
- Lennox syndrome /Lennox-Gastaut syndrome
- West’s syndrome.
Polyneuropathies and other disorders of the peripheral nervous system
- Adult Refsum disease
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy/ peroneal muscular atrophy
- Dejerine-Sottas disease /Dejerine-Sottas syndrome/Dejerine-Sottas neuropathy/progressive hypertrophic interstitial polyneuropathy of childhood/onion bulb neuropathy
- Infantile Refsum disease.
Other disorders of the nervous system
- Hydrocephalus
- Multiple system atrophy.
Conditions resulting in Physical impairment
- Amputation
- Congenital absence of limb or part thereof
- Epidermolysis bullosa
- Harlequin type icthyosis
- Juvenile arthritis / Stills Disease (excluding monocyclic/self-limited Adult Onset Stills disease)
- Rheumatoid arthritis.
Diseases of myoneural junction and muscle
- Andersen-Tawil syndrome/ Periodic paralysis /myoplegia paroxysmalis familiaris
- Becker muscular dystrophy
- Congenital muscular dystrophy
- Distal muscular dystrophy
- Duchenne muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Limb-girdle muscular dystrophy
- Mitochondrial myopathy
- Myotonic dystrophy /dystrophia myotonica
- Myotonic muscular dystrophy
- Myotubular myopathy
- Oculopharyngeal muscular dystrophy
- Paramyotonia Congenita
- Thomsens disease /Congenital myotonia/ Becker myotonia).
Cerebral palsy and other paralytic syndromes not meeting severity criteria on List A
- Cerebral palsy
- Diplegia
- Hemiplegia
- Monoplegia
- Paraplegia
- Quadriplegia
- Tetraplegia.
Conditions resulting in Sensory and/or Speech impairment
Disorders of the choroid and retina where permanent blindness diagnostic and severity criteria on List A are not met
- Behr’s syndrome
- Kearns-Sayre syndrome
- Optic atrophy
- Retinitis pigmentosa
- Retinoschisis (degenerative and hereditary types/juvenile retinoschisis)
- Stargardt disease
- Usher syndrome.
Disorders resulting in hearing loss
- Cortical deafness
- Pendred syndrome
- Sensorineural hearing loss
- Stickler syndrome
- Usher syndrome
- Waardenburg syndrome.
Conditions resulting in multiple types of impairment
- Aceruloplasminemia
- Addison-Schilder disease /Adrenoleukodystrophy
- Albinism
- Arginosuccinic aciduria
- Aspartylglucosaminuria
- Cerebrotendinous xanthomatosis /cerebral cholesterosis
- Congenital cytomegalovirus infection
- Congenital iodine-deficiency syndrome /cretinism
- Congenital rubella syndrome
- Glycine encephalopathy /non-ketotic hyperglycinaemia
- GM1 gangliosidosis
- Hartnup disease
- Homocystinuria
- Lowe syndrome/ Oculocerebrorenal syndrome
- Mannosidosis
- Menkes disease
- Mucolipidosis II /I-cell disease
- Mucolipidosis III /pseudo-Hurler polydystrophy
- Mucolipidosis IV
- Neuronal ceroid lipofuscinosis (NCL)/ Adult type (Kuf’s or Parry’s disease)/ Juvenile (Batten disease)/ Late infantile (Jansky-Bielschowsky)
- Niemann-Pick disease
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase deficiency
- Sialidosis
- Sulfite oxidase deficiency.
The following mucopolysaccharidoses
- Scheie syndrome /MPS 1-H
- Hurler-Scheie syndrome /MPS 1 H-S
- Hunter syndrome /MPS II
- Morquio syndrome /MPS IVA
- Maroteaux-Lamy syndrome /MPS VI
- Sly syndrome /MPS VII.
Congenital conditions – cases where malformations cannot be corrected by surgery or other treatment and result in permanent impairment but with variable severity
- Arnold-Chiari Types 2 and 3/Chiari malformation
- Microcephaly
- Fetal alcohol spectrum disorder
- Fetal hydantoin syndrome
- Spina bifida
- VATER syndrome /VACTERL association.