Document ID: chunk:federal_register_of_legislation:F2025C00106:schedule:1:p2
Version: federal_register_of_legislation:F2025C00106
Segment Type: schedule
Provision Reference: sch 1 (pt 2/2)
Character Range: 221742–224806

chat syndrome, Rett syndrome, Angelman syndrome, Prader‑Willi syndrome, Edwards syndrome (Trisomy 18), Williams syndrome, Patau syndrome (Trisomy 13), Coffin‑Lowry syndrome, Congenital rubella syndrome, Cornelia de Lange syndrome, Kabuki Make‑up syndrome, Larsen syndrome, Opitz G syndrome, Pallister‑Killian syndrome, Seckel syndrome, Smith‑Magenis syndrome, CHARGE association.
Note: This category may apply to children diagnosed with other non‑listed chromosomal or syndromic conditions who have a moderate or severe level of intellectual disability and/or multiple, major and permanent physical abnormalities.
 (u) Neurometabolic degenerative conditions where there is moderate or severe intellectual and/or moderate or severe physical disability as diagnosed by a paediatrician, paediatric sub‑specialist or clinical geneticist:
  (i)  Lysosomal storage disorders.
Example: Children with a moderate or severe intellectual and/or physical disability who have been diagnosed with metachromatic Leukodystrophy, Tay Sachs disease, Krabbe disease, Pompe's disease, Mucopolysaccharidoses (Hurler syndrome (MPS 1)), Hunter syndrome (MPS 2), San Filipo syndrome (MPS 3), Morquio syndrome (MPS IVA), Maroteaux‑Lamy syndrome (MPS VI).
 (v) Neurometabolic conditions.
Example: Children with a moderate or severe intellectual and/or physical disability who have been diagnosed with Lesch Nyhan syndrome, Menkes disease, Zellweger syndrome and related peroxisomal disorders, some mitochondrial respiratory chain disorders.
Note: This category may apply to children diagnosed with other non‑listed neurometabolic degenerative conditions who have a moderate or severe level of intellectual and/or physical disability.
 (w) Neurodegenerative disorders where there is moderate or severe intellectual and/or moderate or severe physical disability as diagnosed by a paediatrician, paediatric sub‑specialist or clinical geneticist.
Example: Children with a moderate or severe intellectual and/or physical disability who have been diagnosed with Ataxia Telangiectasia, unclassified Leukodystrophies.
Note: This category may apply to children diagnosed with other non‑listed neurodegenerative conditions who have a moderate or severe level of intellectual and/or physical disability.
 (x) The following dermatological conditions:
 (i) Epidermolysis Bullosa Dystrophica;
 (ii) Hypohidrotic ectodermal dysplasia (synonym: anhidrotic ectodermal dysplasia);
 (iii) Hay Wells syndrome (synonym: ankylobepharon, ectodermal dysplasia and clefting (AEC) syndrome);
 (iv) Lamellar ichthyosis;
 (v) Harlequin ichthyosis;
 (vi) Sjorgren Larsson syndrome;
 (vii) Netherton syndrome;
 (viii) Severe congenital ichthyosiform erythroderma;
 (ix) Generalised bullous ichthyosis (synonym: bullous ichthyosiform erythroderma; epidermolytic hyperkeratosis).
 (y) Any of the following neuromuscular conditions:
 (i) Duchenne (or Becker) muscular dystrophy;
 (ii) Autosomal recessive muscular dystrophy;
 (iii) Spinal muscular atrophy conditions, for example, Werdnig‑Hoffman;
 (iv) Friedrich's Ataxia.