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- Angelman Syndrome
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- Tuberous Sclerosis Complex (TSC)
- Turner Syndrome
- 22q11.2 Deletion Syndrome
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- Childhood Absence Epilepsy
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- Homocystinuria (Classic)
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- Argininemia
- Argininosuccinic Aciduria
- Beta-Ketothiolase Deficiency (BKD)
- Biotinidase Deficiency
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- Congenital Adrenal Hyperplasia (CAH)
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- Fabry Disease
- Galactosemia
- Glutaric Acidemia Type 1
- Glutaric Acidemia Type 2
- Guanidinoacetate Methyltransferase (GAMT) Deficiency
- Hearing Loss & Deafness
- HMG-CoA Lyase Deficiency
- Holocarboxylase/Multiple Carboxylase Deficiency
- Homocystinuria (Classic)
- Isobutyryl-CoA Dehydrogenase Deficiency
- Isovaleric Acidemia
- LCHAD & TFP Deficiency
- Malonic Acidemia
- Maple Syrup Urine Disease (MSUD)
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
- Methylmalonic Acidemias
- Phenylketonuria (PKU)
- Pompe Disease
- Propionic Acidemia
- Pyruvate Carboxylase Deficiency
- Severe Combined Immunodeficiency (SCID)
- Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency
- Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
- Sickle Cell Anemia
- Spinal Muscular Atrophy (SMA)
- 3MCC Deficiency
- 3-Methylglutaconic Aciduria (3-MGA)
- 2M3HBA Deficiency
- Tyrosinemia Type 1
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
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- Diagnoses & Conditions - FAQs
- Angelman Syndrome (FAQ)
- Anxiety Disorders (FAQ)
- Arginase Deficiency (FAQ)
- Asthma (FAQ)
- Attention Deficit Hyperactivity Disorder (ADHD) (FAQ)
- Autism Spectrum Disorder (FAQ)
- Biotinidase Deficiency (FAQ)
- Celiac Disease (FAQ)
- Cerebral Palsy (FAQ)
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- Childhood Absence Epilepsy (FAQ)
- Childhood Obesity (FAQ)
- Constipation (FAQ)
- Cornelia de Lange Syndrome (FAQ)
- Cystic Fibrosis (FAQ)
- Depression (FAQ)
- Down Syndrome (FAQ)
- Duchenne and Becker Muscular Dystrophy (FAQ)
- Fabry Disease (FAQ)
- Fatty Acid Oxidation Disorders (MCADD, LCHADD, VLCADD) (FAQ)
- Fetal Alcohol Spectrum Disorders (FAQ)
- Foster Care (FAQ)
- Fragile X Syndrome (FAQ)
- Galactosemia (FAQ)
- Headache (FAQ)
- Hearing Loss and Deafness (FAQ)
- Homocystinuria (FAQ)
- Infantile Spasms (FAQ)
- Inflammatory Bowel Disease (FAQ)
- Intellectual Disability and Global Developmental Delay (FAQ)
- Leukodystrophy (FAQ)
- Maple Syrup Urine Disease (MSUD) (FAQ)
- Mucopolysaccharidosis Type I (MPS I) (FAQ)
- Myotonic Muscular Dystrophy (FAQ)
- Neonatal Opioid Withdrawal Syndrome (NOWS) (FAQ)
- Neurofibromatosis Type 1 (FAQ)
- Phenylketonuria (PKU) (FAQ)
- Postural Orthostatic Tachycardia Syndrome (POTS) (FAQ)
- Prader-Willi Syndrome (FAQ)
- Premature Infant Follow-Up (FAQ)
- Rett Syndrome (FAQ)
- Seizure Disorders (FAQ)
- Spina Bifida (FAQ)
- Spinal Cord Injury (FAQ)
- Spinal Muscular Atrophy (FAQ)
- Tourette Syndrome (FAQ)
- Transgender and Gender-Diverse Youth (FAQ)
- Traumatic Brain Injury (FAQ)
- Tuberous Sclerosis Complex (FAQ)
- Turner Syndrome (FAQ)
- 22q11.2 Deletion Syndrome (FAQ)
- XXY Syndrome (FAQ)
- Mental Health
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- About Children & Youth with Special Health Care Needs (CYSHCN)
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- Common Issues for CYSHCN
- Acute Flaccid Myelitis (AFM)
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- Oral Health
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