Disease Index

• ACUTE HEPATIC PORPHYRIA: affects the heme synthesis pathway
• Hereditary ATTR Amyloidosis
• Primary Hyperoxaluria Type 1
• 10q22.3q23 microdeletion syndrome
• 11-beta-hydroxylase deficiency
• 12q14 microdeletion syndrome
• 15q11.2 microdeletion
• 15q13.3 microdeletion syndrome
• 15q13.3 microduplication syndrome
• 15q24 microdeletion syndrome
• 16p11.2 deletion syndrome
• 16p11.2 duplication
• 16q24.3 microdeletion syndrome
• 17-alpha-hydroxylase deficiency
• Aagenaes syndrome
• Aarskog syndrome
• Abdominal cystic lymphangioma
• Aberrant subclavian artery
• Abetalipoproteinemia
• Ablepharon macrostomia syndrome
• Abruzzo-Erickson syndrome
• Baird syndrome - Absence of Fingerprints
• Acalvaria
• Acanthocheilonemiasis
• Acanthoma
• Acatalasemia
• Behcet's Syndrome
• Cori Disease
• Crigler-Najjar Syndrome
• Dandy-Walker Malformation
• Factor XI deficiency
• Pompe Disease
• Porphyria Cutenea Tarda
• Primary Ciliary Dyskinesia
• Pyruvate carboxylase deficiency
• Pyruvate dehydrogenase complex deficiency (PDCD)
• Pyruvate Kinase Deficiency
• Q Fever
• Rasmussen encephalitis
• Sheehan Syndrome
• Tethered cord syndrome
• UGDH Related Disorder