Inheritance Patterns Flashcards
0
Q
X-Linked Dominant
A
X-linked Hypophosphatemic Rickets
Pseudohypoparathyroidism
Aicardi Syndrome
Alport Syndrome
1
Q
X-Linked Recessive
A
Hemophilia A/B G6PD Deficiency CGD DMD Nephrogenic DI Retinitis Pigmentosa Androgen Insensitivity Wiskott Aldrich
2
Q
Autosomal Dominant
A
Tuberous Sclerosis Achondroplasia Retinoblastoma Marfan Syndrome Apert Syndrome all Porphyrias Neurofibromatosis (often spontaneous) Wardenburg Syndrome Huntington's Chorea Peutz-Jeghers Syndrome Von Willebrand Disease Gardner Syndrome
3
Q
Autosomal Recessive
A
Most IEM a1AT SCD Thalassemia Wilson Disease Kartagener Syndrome
