Hereditary/Chromosomal Syndromes and Disorders (# FAVI constituents recorded) Marshall syndrome Aicardi syndrome Maroteaux-Lamy syndrome (MPS VI) Alport syndrome Moebius syndrome (1) Alstrom syndrome Monosomy 10p (1) Apert syndrome (Acrocephalosyndactyly, Morquio syndrome (MPS IV-B) Type 1) NF1 - Neurofibromatosis (von Bardet-Biedl syndrome (Laurence Moon- Recklinghausen disease) (1) Biedl) NF2 - Bilateral Acoustic Batten disease Neurofibromatosis CHARGE syndrome (44) Norrie disease (2) Chromosome 18, Ring 18 Optico-Cochleo-Dentate Degeneration Cockayne syndrome Pfieffer syndrome (3) Cogan Syndrome Prader-Willi Cornelia de Lange (2) Pierre-Robin syndrome Cri du chat syndrome (Chromosome 5p- Refsum syndrome syndrome) Scheie syndrome (MPS I-S) Crigler-Najjar syndrome Smith-Lemli-Opitz (SLO) syndrome Crouzon syndrome (Craniofacial Stickler syndrome (8) Dysotosis) Sturge-Weber syndrome Dandy Walker syndrome (2) Treacher Collins syndrome (3) Down syndrome (Trisomy 21 syndrome) Trisomy 13 (Trisomy 13-15, Patau (14) syndrome) (5) Goldenhar syndrome (8) Trisomy 18 (Edwards syndrome) (2) Hand-Schuller-Christian (Histiocytosis X) Turner syndrome (1) Hallgren syndrome Usher I syndrome (11) Herpes-Zoster (or Hunt) Usher II syndrome (3) Hunter Syndrome (MPS II) Usher III syndrome (1) Hurler syndrome (MPS I-H) (1) Vogt-Koyanagi-Harada syndrome Kearns-Sayre syndrome Waardenburg syndrome (1) Klippel-Feil sequence Wildervanck syndrome Klippel-Trenaunay-Weber syndrome Wolf-Hirschhorn syndrome (Trisomy Kniest Dysplasia 4p) (1) Leber congenital amaurosis (1) Other Hereditary/Chromosomal (37): Leigh Disease 13q Marfan syndrome deletion, Trisomy 9, 13, Aicardi-Goutieres syndrome 4, 1P 36 deletion syndrome, 4p deletion syndrome, partial trisomy 10, Gomez-Lopez- Hernandez syndrome, Peters anomaly, Steven Complications of Prematurity (65) Johnson syndrome, Pallister-Killian syndrome, No Determination of Etiology (102) Warfarin syndrome, DeMorsier's syndrome