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1. MECP2-related severe neonatal encephalopathy condition summary
   Related classification: Brain Diseases

   Related genes:

   • MECP2
2. dentatorubral-pallidoluysian atrophy condition summary
   Related classification: Brain Diseases

   Related genes:

   • ATN1
3. COL4A1-related brain small-vessel disease condition summary
   Related classification: Brain Diseases

   Related genes:

   • COL4A1
4. familial idiopathic basal ganglia calcification condition summary
   Related classification: Brain Diseases

   Related genes:

   • PDGFRB
   • SLC20A2
5. familial porencephaly condition summary
   Related classification: Brain Diseases

   Related genes:

   • COL4A1
6. hereditary cerebral amyloid angiopathy condition summary
   Related classification: Brain Diseases, Metabolic, Inborn

   Related genes:

   • APP
   • CST3
   • ITM2B
7. 2-hydroxyglutaric aciduria condition summary
   Related classification: Brain Diseases, Metabolic, Inborn

   Related genes:

   • D2HGDH
   • L2HGDH
8. Alpers-Huttenlocher syndrome condition summary
   Related classification: Brain Diseases

   Related genes:

   • POLG
9. aromatic l-amino acid decarboxylase deficiency condition summary
   Related classification: Brain Diseases, Metabolic, Inborn

   Related genes:

   • DDC
10. citrullinemia condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • ASS1
    • SLC25A13
11. Fabry disease condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • GLA
12. fragile X-associated tremor/ataxia syndrome condition summary
    Related classification: Brain Diseases

    Related genes:

    • FMR1
13. galactosemia condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • GALE
    • GALK1
    • GALT
14. GLUT1 deficiency syndrome condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • SLC2A1
15. GM1 gangliosidosis condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • GLB1
16. leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation condition summary
    Related classification: Brain Diseases

    Related genes:

    • DARS2
17. Leigh syndrome condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes and chromosomes:

    • mitochondrial DNA
    • MT-ATP6
    • SURF1
    • more
18. Menkes syndrome condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • ATP7A
19. Niemann-Pick disease condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • NPC1
    • NPC2
    • SMPD1
20. pyruvate dehydrogenase deficiency condition summary
    Related classification: Brain Diseases, Metabolic, Inborn

    Related genes:

    • DLAT
    • DLD
    • PDHA1
    • PDHB
    • PDHX
    • PDP1