Kabuki syndrome and Metachromatic Leukodystrophy, dual diagnosis in a female patient: a case report
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Presenting Author - Robert RO. LEBEL, MD; Co-Author - Jennifer Black, MS, CGC; Co-Author - Melissa C. Byler, CGC; Co-Author - Robert Roger Lebel, MD, FACMG; Co-Author - Nienke Dosa, MD, MPH;
Meta Tag
Clinical History
Cognitive Disorders
Congenital Anomaly
Counseling
Exome sequencing
Gastrointestinal System
Genetic Testing
Intellectual disability
Malformation
Metabolic Disorder
Microarray
Musculoskeletal system
Phenotype
Phenotypic delineation of disorders
Variant Detection
Co-Author Jennifer Black, MS, CGC
Co-Author Melissa C. Byler, CGC
Co-Author Robert Roger Lebel, MD, FACMG
Co-Author Nienke Dosa, MD, MPH
Presenting Author Robert RO. LEBEL, MD
Keywords
Kabuki syndrome
Niikawa syndrome
metachromatic leukodystrophy
MLD
KMT2D gene
KDM6A gene
ARSA gene
microcephaly
dysmorphic features
scoliosis

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