Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Neonatal adrenoleukodystrophy

Neonatal adrenoleukodystrophy (NALD) is a rare genetic disorder in newborns caused by a ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Zellweger Syndrome

Zellweger syndrome (ZS) is a rare, inherited disorder that affects the body’s ability to ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

X-Linked Complicated Corpus Callosum Dysgenesis

X-linked complicated corpus callosum dysgenesis is a rare genetic condition that affects ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

X-linked Charcot–Marie–Tooth Diseases

X-linked Charcot–Marie–Tooth disease (often abbreviated CMTX) is a hereditary peripheral ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Williams Syndrome (WS)

Williams syndrome (WS), also known as Williams–Beuren syndrome, is a rare genetic ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Wernicke–Korsakoff Syndrome

Wernicke–Korsakoff syndrome is a serious brain disorder caused by a lack of thiamine ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adult Progeria (Werner Syndrome)

Adult progeria, formally known as Werner syndrome (WS), is a rare genetic disorder that ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Werner Syndrome

Werner syndrome is a rare autosomal recessive genetic disorder marked by the early onset ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Superior Alternating Hemiplegia

Superior alternating hemiplegia, commonly known as Weber’s syndrome, is a rare brainstem ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Weber’s Syndrome

Weber’s syndrome, also known as superior alternating hemiplegia or midbrain stroke ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Walker–Warburg Syndrome (WWS)

Walker–Warburg syndrome (WWS) is a rare, autosomal recessive congenital muscular ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

TRPM3-Related Neurodevelopmental Disorder (TRPM3-NDD)

TRPM3-related neurodevelopmental disorder (TRPM3-NDD) is a rare monogenic condition ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Triploid Syndrome

Triploid syndrome, also called triploidy, is a rare chromosomal disorder in which every ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

SYNGAP1-Related Intellectual Disability

SYNGAP1-related intellectual disability (SYNGAP1-ID) is a rare, monogenic ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Susac’s Syndrome

Susac’s syndrome is a rare autoimmune disease characterized by an immune-mediated ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Subclavian Steal Syndrome

Subclavian steal syndrome (SSS), also known as subclavian-vertebral artery steal syndrome ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Sturge–Weber Syndrome (SWS)

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Stiff-person Syndrome (SPS)

Stiff-person syndrome (SPS) is a rare, progressive neurological disorder characterized by ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Cerebral Gigantism

Cerebral gigantism, historically known as “cerebral gigantism in childhood” and now most ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Sotos Syndrome

Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder ...
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