Conditions

NERGN closed on May 31, 2024. Our new updated GEMSS resource will be available soon at its new home on the Family Voices website.
The current, non-updated resources will remain available for download here until November 2025.

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Choose a condition from the buttons below.

22Q Deletion Velocardiofacial
Achondroplasia
Aicardi Syndrome
Angelman Syndrome (AS)
Autism Spectrum Disorder
Charge Syndrome
Congenital Heart Defects
Cornelia De Lange Syndrome (CDLS)
Cystic Fibrosis
Down Syndrome
Ehlers-Danlos Syndrome (EDS)
Fetal Alcohol Spectrum Disorders (FASDS)
Fragile X
Galactosemia
Kabuki Syndrome
Klinefelter Syndrome
Marfan Syndrome
MCAD
MECP2 Duplication
Mitochondrial Disorders
MPS Disorders (Hurler/Hunter/Morquio)
Neurofibromatosis 1
Noonan Syndrome
Phenylketonuria (PKU)
Prader-Willi
RETT/RETT Variant Syndrome
Rubinstein-Taybi Syndrome
Russell-Silver Syndrome
Sickle Cell Disease
SMA, MD & Other Neuromuscular Disorders
Smith-Magenis Syndrome
Sotos Syndrome
Tuberous Sclerosis
Turner Syndrome
Urea Cycle Disorders
VLCAD
Williams Syndrome
Undiagnosed Medical or Developmental Conditions

Conditions

New England Regional Genetics Network