22q11.2 Deletion Syndrome Autosomal Recessive Inheritance Common Variable Immunodeficiency (CVID) Fragile X Syndrome Infantile Refsum's Disease Kartagener Syndrome Leber's Optic Atrophy Marfan Syndrome Microcephaly Mosaicism Prader-Willi Syndrome Primary Ciliary Dyskinesia (PCD) Severe Combined Immunodeficiency (SCID) Shprintzen-Goldberg Syndrome Spinal Muscular Atrophy Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) Translocation Down Syndrome Trisomy 18 and 13 Turner Syndrome Williams Syndrome
22q11.2 Deletion Syndrome Autosomal Recessive Inheritance Common Variable Immunodeficiency (CVID) Fragile X Syndrome Infantile Refsum's Disease Kartagener Syndrome Leber's Optic Atrophy Marfan Syndrome Microcephaly Mosaicism Prader-Willi Syndrome Primary Ciliary Dyskinesia (PCD) Severe Combined Immunodeficiency (SCID) Shprintzen-Goldberg Syndrome Spinal Muscular Atrophy Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) Translocation Down Syndrome Trisomy 18 and 13 Turner Syndrome Williams Syndrome
