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Teach me all there is to know as MBBS student about genetic disorders

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That is a complete, exam-ready MBBS guide to genetic disorders covering all major curriculum topics. Here's a quick roadmap of what was covered:
What's in this guide:
  1. Classification — The 4 categories: Monogenic, Chromosomal, Multifactorial, Somatic
  2. Mutation types — Point, frameshift, splice site, trinucleotide repeats, CNVs
  3. Inheritance patterns — AD, AR, XR, XD, Y-linked with rules and examples
  4. Biochemical basis — Structural protein defects, enzyme defects, receptor/transport defects
  5. Key Mendelian disorders — Marfan, familial hypercholesterolemia (LDL receptor classes I–VI), cystic fibrosis (CFTR/ΔF508), PKU, all lysosomal storage diseases, glycogen storage diseases
  6. Chromosomal disorders — Trisomy 21, 18, 13; 22q11.2 deletion (DiGeorge/CATCH-22); Klinefelter; Turner; 47,XYY; 47,XXX
  7. Non-classic inheritance — Trinucleotide repeats (Fragile X, Huntington, myotonic dystrophy, Friedreich); Mitochondrial inheritance (LHON, heteroplasmy, threshold effect); Genomic imprinting (Prader-Willi vs. Angelman); Mosaicism
  8. Multifactorial disorders — Carter effect, recurrence risk principles
  9. Molecular diagnostics — Karyotype, FISH, PCR, array CGH, NGS, cfDNA/NIPT
  10. High-yield tables and mnemonics for quick exam revision
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