Ophthalmology/Eye Diseases

May 4, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Heart Diseases, Kidney And Urinary Diseases, Ophthalmology/Eye Diseases

CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which…
May 3, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Uncategorized

Sanfilippo Syndrome (Mucopolysaccharidosis III)

Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome…
May 1, 2020| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Ophthalmology/Eye Diseases, Skin Conditions, Uncategorized

Neonatal Onset Multisystem Inflammatory Disease (NOMID)

Other Names: CINCA syndrome; CINCA; Infantile Onset Multisystem Inflammatory…
Apr 29, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions

Menkes Disease

Menkes disease is a disorder that affects copper levels…
Apr 28, 2020| Posted in: Congenital And Genetic Conditions, Gastrointestinal Diseases, Ophthalmology/Eye Diseases

Zellweger Syndrome

Overview Zellweger syndrome (cerebrohepatorenal syndrome), is a rare…
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