Dr. Ermal Aliu

I am a clinical geneticist and a pediatrician with a deep interest in undiagnosed and rare genetic disorders. I provide medical care for children and adults with chromosome 22q11.2 deletion syndrome and diagnostic evaluation for patients with symptoms and signs of genetic disorders, when evaluations have not provided a specific diagnosis. Dr. Shashi is rated as a Distinguished provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are DiGeorge Syndrome, Hypotonia, Immune Defect due to Absence of Thymus, and Micrognathia.

Clara Hildebrandt is a Pediatrics specialist and a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Hildebrandt is rated as an Advanced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Ring Chromosome 18, Hypotonia, Chromosome 18p Deletion, Blepharophimosis, and Gastrostomy. Dr. Hildebrandt is currently accepting new patients.

I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Advanced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.