Menkes Disease

Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition.

Sickle Cell Anemia

Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S. Sickle cell anemia is  is an inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body,...

Sanfilippo Syndrome (Mucopolysaccharidosis III)

Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; Heparan sulfate sulfatase deficiency   Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare and progressive autosomal recessive lysosomal storage...

Batten Disease

Other Names: Neuronal ceroid lipofuscinosis, NCL Batten disease is a fatal, inherited disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun...

Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders)

Overview Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders (PBD) caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical...
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