Neurology Genetics
Matching game of mutations and conditions.
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Topics of this game:
- CMT1
- CMT4
- NF1
- NF2
- Ataxia Telangectasia
- Von Hippel-Lindau
- Incontinentia pigmenti
- Sturge-Weber
- Huntington's
- Fragile X
- Friedreich Ataxia
- Myotonic Dystrophy I
- Myotonic Dystrophy II
- Spinobulbar Muscular Atrophy
- DRPLA
- Digeorge (velocardiofacial)
- Williams Syndrome
- Prader-Willi and Angelman
- Rett
- Abetalipoproteinemia (Bassen-Kornzwieg syndrome)
- Friedreich ataxia
- Spastic ataxia of Charlevoix-Saguenay
- Mitochondrial recessive ataxia syndrome (MIRAS)
- Marinesco-Sjögren syndrome
- Ataxia with isolated vitamin E deficiency (AVED)
- Refsum disease
- Cerebrotendinous xanthomatosis (CTX)
- Microsomal triglyceride transfer protein
- Metachromatic leukodystrophy
- Niemann-Pick disease type C
- GM1 gangliosidosis
- GM2 gangliosidosis (Tay-Sachs disease)
- Chorea-acanthocytosis
- ATPase copper-transporting β-polypeptide
- Aceruloplasminemia
- Ataxia telangiectasia
- Ataxia with oculomotor apraxia 1 (AOA1)
- Ataxia with oculomotor apraxia 2 (AOA2)
- Ataxia-telangiectasia-like disorder (ATLD)
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- McArdle disease
- Pompe disease
- CPT deficiency 2
- Pyruvate dehydrogenase as the rate-limiting step
- Decreased GLUT1 glucose transport
- Branched α-ketoacid dehydrogenase complex deficiency
- Cystathionine β-synthase deficiency
- 5-Aminolevulinic acid dehydratase-deficiecy porphyria
- Porphobilinogen deaminase partial deficiency
- Coproporphyrinogen oxidase partial deficiency
- Protoporphyrinogen oxidase deficiency
- Sandhoff disease
- α-l-iduronidase
- Iduronate sulfatase
- Heparan N-sulfatase
- α-N-acetylglucosaminidase
- Acetyl-CoA α-glucosaminide acetyltransferase
- N-acetyl glucosamine 6-sulfatase
- N-acetylgalactosamine 6-sulfatase
- β-galactosidase
- N-acetylgalactosamine 4-sulfatase (arylsulfatase B)
- β-glucuronidase
- Hyaluronidase
- Alexander
- Galactocerebrosidase deficiency
- Arylsulfatase A deficiency
- X-linked adrenoleukodystrophy
- Pelizaeus-Merzbacher disease
- Benign familial neonatal seizures
- Generalized epilepsy with febrile seizures plus (GEFS+)
- Severe myoclonic epilepsy of infancy (Dravet syndrome)
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant lateral temporal lobe epilepsy
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