ALG11 Congenital Disorder of Glycosylation (ALG11-CDG)

Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Rx Autoimmune, Genetic and Rare Diseases (A - Z)

ALG11-CDG is a rare, inherited disease that starts at birth or in early infancy. It happens because a child receives two non-working copies of a gene called ALG11 (one from each parent). The ALG11 gene makes an enzyme (a helper protein) that adds two tiny sugar units called mannose to a growing sugar chain inside our cells. This sugar chain (called a lipid-linked oligosaccharide) is later attached to many proteins in the cell. That process is called N-glycosylation. If ALG11 does not work, the sugar chain is not built correctly. As a result, many proteins in the body are made without the right sugars, so they cannot do their jobs well. Because many organs need glycosylated proteins, symptoms usually involve the brain and nerves, feeding and growth, and sometimes the eyes and hearing. This condition is also known as a “type I” congenital disorder of glycosylation (CDG-Ip). cdghub.com+1

ALG11-CDG is a very rare, inherited metabolic disease. It happens when a child is born with changes (mutations) in both copies of a gene called ALG11. This gene makes an enzyme that adds the simple sugar mannose onto a growing sugar chain that sits on a lipid “holder” (called a dolichol-linked oligosaccharide) inside the cell’s endoplasmic reticulum. These sugar chains are later attached to proteins in a process called N-glycosylation. N-glycosylation is like putting the right “sugar tags” on thousands of proteins so they can fold, move, and work properly. If ALG11 does not work, the sugar chain is unfinished, many proteins are under-glycosylated, and body systems—especially the brain and nerves—do not develop or function normally. Children usually show problems in infancy, such as weak muscle tone, developmental delay, seizures, feeding troubles, hearing or vision problems, and poor growth. There is no single curative medicine yet; care focuses on treating each problem and preventing complications. cdghub.com+2NCBI+2

Other names

Doctors and websites may use different names for the same disease. Common synonyms include: ALG11-CDG, CDG-Ip, congenital disorder of glycosylation type Ip, carbohydrate-deficient glycoprotein syndrome type Ip, and CDG1P. rarediseases.info.nih.gov

Inside the endoplasmic reticulum of the cell, ALG11 normally adds the 4th and 5th mannose sugars to the building block that will later be attached to proteins. When ALG11 is faulty, this building block remains incomplete. That incomplete block cannot be attached properly, leaving many proteins under-glycosylated (missing sugars). One laboratory sign of ALG11-CDG is the build-up of shortened sugar chains and an abnormal pattern on tests that look at a blood protein called transferrin. In some patients, a cell protein called GP130 also shows an abnormal “sugar pattern” and can be used as an additional clue. cdghub.com

Types

ALG11-CDG is a single gene disorder, but the clinical picture is broad. Doctors sometimes group patients by severity or by age at presentation:

  1. Severe early-infantile form. Early feeding problems, poor growth, low muscle tone, difficult-to-control seizures, and delayed development. Many children have microcephaly (small head size) and eye movement problems such as strabismus. rarediseases.info.nih.gov+1

  2. Moderate childhood-onset form. Developmental delay with seizures that may be easier to control, plus neurologic and sensory features (for example, reduced vision or hearing). Some children may walk and say words but with delays. PubMed

  3. Biochemical “atypical” form. Very rarely, the usual transferrin test can look normal even when ALG11-CDG is present; in such cases, other tests (like GP130 analysis or genetic testing) reveal the diagnosis. PubMed

(Note: These “types” are practical clinical groupings based on reported cases, not official subtypes of the gene.)

Causes

The root cause is always the same: biallelic (two-copy) pathogenic variants in the ALG11 gene. Below are 20 ways that this root cause can happen or affect the pathway, described in plain words. Think of them as different genetic changes or mechanisms—all pointing to ALG11 not working properly:

  1. Missense variants (a single “letter change” alters one amino acid and weakens enzyme activity). PubMed

  2. Nonsense variants (a change introduces a stop signal; the protein is cut short). cdghub.com

  3. Frameshift variants (small insertions/deletions shift the reading frame and break the protein). cdghub.com

  4. Splice-site variants (the cell cuts and joins the RNA incorrectly; important parts are lost). cdghub.com

  5. Whole-gene or multi-exon deletions (rare; one copy may be missing entirely). cdghub.com

  6. Compound heterozygosity (two different harmful variants—one on each parent’s copy). PubMed

  7. Homozygous variants (the same variant inherited from both parents, often in consanguineous families). PubMed

  8. Variants that disrupt the catalytic site of ALG11 (directly reduce sugar-transfer ability). cdghub.com

  9. Variants that affect protein stability (the enzyme is made but quickly breaks down). cdghub.com

  10. Variants that mislocalize the enzyme (so ALG11 is not in the right place in the ER membrane). cdghub.com

  11. Variants that lower gene expression (less ALG11 protein is produced). cdghub.com

  12. Promoter/regulatory variants (alter how the gene is switched on; rare but possible in CDG genes). cdghub.com

  13. Deep intronic variants (hidden changes that disturb splicing; documented across CDG genes). BioMed Central

  14. Founder variants in specific populations (same harmful change seen repeatedly in a group). PubMed

  15. Mosaicism in a parent (rare; a parent’s eggs/sperm carry the variant even if blood testing is negative). BioMed Central

  16. Pathway stressors that unmask the defect (cell stress may worsen under-glycosylation in ALG11 deficiency). cdghub.com

  17. Limited mannose donors (GDP-mannose/Dol-P-mannose) interacting with ALG11 defects (pathway bottlenecks). cdghub.com

  18. Secondary effects on the lipid-linked oligosaccharide (LLO) pool (short, incomplete LLOs accumulate). cdghub.com

  19. Errors in flipping or transferring the LLO, which make ALG11 defects clinically worse (pathway interaction). cdghub.com

  20. Autosomal recessive inheritance itself (two faulty copies are required; carriers are healthy). cdghub.com

Common symptoms and signs

  1. Developmental delay and learning difficulties. Most children learn skills more slowly; many need long-term therapy for motor and speech skills. cdghub.com

  2. Seizures (often difficult to control). Seizures can begin in infancy and may require more than one anti-seizure drug. PubMed+1

  3. Hypotonia (low muscle tone). Babies feel “floppy” and tire easily; later, some develop increased tone in the limbs. cdghub.com

  4. Microcephaly. Head size is smaller than expected and may become more obvious over time. rarediseases.info.nih.gov

  5. Feeding problems and vomiting. Poor suck, reflux, and recurrent vomiting are common in infancy. rarediseases.info.nih.gov

  6. Failure to thrive or poor weight gain. Because of feeding difficulty and high energy needs, weight and growth may lag. rarediseases.info.nih.gov

  7. Eye movement problems (strabismus) and reduced visual tracking. The eyes may not line up; following objects can be hard. rarediseases.info.nih.gov+1

  8. Hearing loss (often sensorineural). Some children develop reduced hearing or deafness. ScienceDirect

  9. Distinct facial features. A high forehead, long philtrum, and other mild changes can be seen on exam. rarediseases.info.nih.gov

  10. Temperature instability. Body temperature may swing without infection, especially in early life. rarediseases.info.nih.gov

  11. Abnormal fat pads or fat distribution. Soft pads or unusual fat patterning have been described in some infants. rarediseases.info.nih.gov

  12. Gastrointestinal bleeding (rare). Some infants have had gastric bleeding, usually early. rarediseases.info.nih.gov

  13. Hyperreflexia or abnormal reflexes. Reflexes can be unusually brisk. cdghub.com

  14. Progressive brain changes on imaging. Some reports show brain tissue loss (atrophy) as children grow. Pedneur

  15. Speech delay and limited expressive language. Many children say fewer words than peers and need speech therapy. PubMed

Diagnostic tests

A) Physical examination and bedside assessments

  1. General pediatric exam. Doctors check growth, body temperature pattern, feeding, and look for unusual fat pads or inverted nipples; this sets the first suspicion. rarediseases.info.nih.gov

  2. Neurologic exam. Muscle tone, strength, reflexes, and head control are checked; low tone plus brisk reflexes can point toward a glycosylation disorder. cdghub.com

  3. Dysmorphology exam. A clinical geneticist looks for facial features (high forehead, long philtrum) and body findings common in ALG11-CDG. rarediseases.info.nih.gov

  4. Ophthalmologic exam. Eye alignment (strabismus), eye movements, and tracking are assessed at the slit lamp and with simple fixation tests. cdghub.com

  5. Audiology screening. Early hearing checks (start with otoacoustic emissions) trigger further tests if abnormal. ScienceDirect

  6. Developmental evaluation. Structured tools (such as Bayley scales) document delays and guide therapy plans.

B) “Manual” or functional specialist tests

  1. Feeding/swallow study. A speech-language pathologist evaluates suck-swallow-breathe coordination and aspiration risk.

  2. Physical/occupational therapy functional assessment. Measures balance, posture, and fine motor skills to tailor therapy.

  3. Vision functional tests. Tracking, fixation, and contrast-sensitivity checks reveal how vision problems affect daily life. cdghub.com

  4. Genetic counseling pedigree review. A counselor maps family relationships (including consanguinity) to estimate inheritance risk. PubMed

C) Laboratory and pathological tests

  1. Serum transferrin analysis (isoelectric focusing or mass spectrometry). Many patients show a type I CDG pattern (reduced fully-sialylated transferrin and increased low-sialylated forms). Rarely, transferrin can be normal, so a normal result does not exclude ALG11-CDG. cdghub.com+1

  2. LLO (lipid-linked oligosaccharide) analysis in cultured fibroblasts. Shows build-up of shortened GlcNAc₂Man₃/₄ chains expected in ALG11 deficiency. cdghub.com

  3. GP130 glycosylation assay (e.g., western blot in fibroblasts). GP130 appears “undersugar-coated,” serving as a supportive biomarker. PubMed

  4. Targeted CDG gene panel or whole-exome sequencing. Finds the two disease-causing ALG11 variants; this is the definitive diagnostic test. cdghub.com

  5. Sanger sequencing for confirmation and parental “carrier” testing after exome/panel results. PubMed

  6. Enzyme/functional studies (research or specialized labs). Assess mannosyltransferase activity or ALG11 protein amount if the variant is uncertain. PubMed

  7. Basic metabolic/liver tests. Helpful for baseline and differential diagnosis; in ALG11-CDG, broad routine chemistries may be normal or nonspecific. cdghub.com

D) Electrodiagnostic tests

  1. EEG (electroencephalogram). Confirms seizures, guides anti-seizure treatment, and monitors response. PubMed

  2. Auditory brainstem response (ABR). Measures hearing nerve pathways when hearing loss is suspected or OAE is abnormal. ScienceDirect

E) Imaging tests

  1. Brain MRI. Often shows microcephaly and, in some children, progressive brain atrophy or delayed myelination; helps with prognosis and care planning. Pedneur

Non-pharmacological treatments (therapies & other supports)

  1. Comprehensive care coordination. A pediatric neurologist leads a team (nutrition, PT/OT, speech, audiology, ophthalmology). This ensures problems are found early and managed quickly. NCBI

  2. Physiotherapy (PT). Gentle strengthening, posture work, and contracture prevention improve function and reduce pain.

  3. Occupational therapy (OT). Fine-motor training and daily-living skills (feeding tools, seating, splints) increase independence.

  4. Speech-language therapy. Helps swallowing safety and develops speech/communication; early therapy supports brain plasticity.

  5. Feeding therapy & safe-swallow strategies. Texture changes, pacing, and positioning reduce aspiration and improve calories.

  6. Nutrition plan with calorie-dense feeds. Adds energy and protein to support growth; consider tube feeding if oral intake is unsafe or inadequate. NCBI

  7. Management of reflux without drugs (positioning, meal timing). Upright posture and small frequent feeds ease symptoms.

  8. Hearing management (hearing aids; implant evaluation). Early amplification maximizes language and social development. PubMed

  9. Vision rehabilitation. Glasses, patching for strabismus, and visual-skills training support learning. Orpha.net

  10. Seizure action plan & caregiver training. Clear steps for rescue therapy and when to seek emergency care.

  11. Behavioral and developmental therapies. Early-intervention programs and special education optimize outcomes.

  12. Orthotics and positioning devices. AFOs, seating systems, and standing frames prevent deformity and help mobility.

  13. Respiratory hygiene. Chest physiotherapy and suctioning during illnesses lower pneumonia risk.

  14. Sleep hygiene routines. Regular schedule, calming environment, and light control improve sleep quality.

  15. Vaccinations on time. Reduces infection risk in a medically fragile child. BioMed Central

  16. Social work and family support. Access to services, home equipment, and respite care reduces caregiver stress.

  17. Palliative/supportive care involvement (when needed). Focus on comfort, symptom control, and family goals at any stage.

  18. Genetic counseling for the family. Explains inheritance, recurrence risk, and testing options for relatives. NCBI

  19. Dental/oral care plan. Regular visits and oral-motor strategies lower aspiration and caries risk.

  20. Safety planning. Seizure-proofing, mobility aids, and choking prevention minimize emergencies.

Drug treatments

Important: There is no disease-specific, curative drug for ALG11-CDG yet. Medicines target symptoms and complications, as recommended by your child’s specialists. Always follow local pediatric dosing guidance.

  1. Levetiracetam (antiepileptic). Class: SV2A modulator. Example dose: often 10–60 mg/kg/day in 2 doses. Purpose: control focal/generalized seizures. Mechanism: reduces synaptic neurotransmitter release. Side effects: irritability, somnolence. PMC

  2. Valproate (antiepileptic). Class: broad-spectrum AED. Example: 10–60 mg/kg/day in divided doses. Purpose: refractory seizures. Mechanism: increases GABA, blocks sodium channels. Cautions: liver toxicity, thrombocytopenia, teratogenicity (avoid in pregnancy). PMC

  3. Topiramate (antiepileptic). Class: AMPA/GABA modulator. Example: 1–9 mg/kg/day. Purpose: adjunct for refractory epilepsy. Side effects: appetite loss, stones. PMC

  4. Clobazam (benzodiazepine). Example: 0.25–1 mg/kg/day. Purpose: adjunct for difficult seizures. Side effects: sedation, tolerance. PMC

  5. Lamotrigine (antiepileptic). Example: slow titration; ~1–10 mg/kg/day. Purpose: focal/generalized control. Risk: rash; titrate carefully. PMC

  6. Rescue midazolam (nasal/buccal) for prolonged seizures. Purpose: home rescue per plan. Mechanism: GABA-A agonist. Side effects: drowsiness, respiratory depression (use with training).

  7. Baclofen (antispasticity). Example: 0.3–1 mg/kg/day divided. Purpose: tone-related discomfort/contractures. Mechanism: GABA-B agonist.

  8. Tizanidine (antispasticity). Example: individualized micro-doses in children. Mechanism: alpha-2 agonist; reduces motor neuron firing.

  9. Melatonin (sleep). Example: 1–5 mg at night. Purpose: sleep-onset problems. Mechanism: circadian support.

  10. Proton-pump inhibitor (omeprazole) or H2-blocker (famotidine) for reflux. Purpose: reduce acid injury and pain. Mechanism: acid suppression.

  11. Cyproheptadine (appetite stimulant/antimigraine). Example: 0.25 mg/kg/day. Purpose: improve intake and weight; may calm reflux. Side effects: drowsiness.

  12. Osmotic laxative (polyethylene glycol). Purpose: constipation from low tone. Mechanism: draws water into stool.

  13. Vitamin K (if coagulopathy). Purpose: support clotting; only when lab-indicated. Mechanism: cofactor for clotting factor carboxylation. NCBI

  14. Ursodeoxycholic acid (if cholestasis). Purpose: improve bile flow and liver labs when indicated.

  15. Antibiotics (when infections occur). Purpose: treat bacterial illness promptly in medically fragile children.

  16. Antiemetics (ondansetron as needed). Purpose: reduce vomiting and dehydration risk.

  17. Acetazolamide (selected ataxias in other CDG). Sometimes used symptomatically in CDG subtypes with ataxia; benefit is variable and diagnosis-specific. Discuss risks. NCBI

  18. Multivitamin/mineral supplements (medical-grade). Purpose: cover micronutrient gaps from restricted intake.

  19. Levocarnitine (if deficiency). Purpose: fatty-acid transport support; check levels first.

  20. Coagulation factor replacement (hospital-directed). Purpose: manage significant bleeding risk if documented. NCBI

Dietary molecular supplements

  1. Vitamin D3. Supports bone and immune function; mechanism: nuclear receptor signaling to promote calcium absorption.

  2. Calcium. Bone growth; mechanism: mineral substrate for bone matrix.

  3. Iron. Prevents anemia; mechanism: hemoglobin synthesis and mitochondrial enzymes.

  4. Zinc. Wound-healing and enzyme function; mechanism: cofactor for hundreds of enzymes.

  5. Omega-3 (DHA/EPA). May aid neurodevelopment and reduce inflammation; mechanism: membrane fluidity and eicosanoid balance.

  6. Riboflavin (B2). Mitochondrial redox cofactor for energy enzymes.

  7. Thiamine (B1). Coenzyme for carbohydrate metabolism.

  8. Magnesium. Neuromuscular stability and bowel regularity.

  9. Levocarnitine. Transports long-chain fatty acids into mitochondria; consider if low.

  10. Coenzyme Q10. Electron transport chain cofactor and antioxidant.
    (These are supportive; they do not correct ALG11. Choose and dose only under clinical guidance.) NCBI

Immunity-booster / regenerative / stem-cell drugs

There are no proven immune-booster, regenerative, or stem-cell drugs for ALG11-CDG at this time. Below are research directions, not approved treatments:

  1. Gene therapy (AAV or other vectors). Concept: deliver a working ALG11 copy to cells; no clinical trials yet for ALG11-CDG. BioMed Central

  2. mRNA therapy. Concept: provide transient ALG11 mRNA so cells make the enzyme. Preclinical idea, not available. BioMed Central

  3. Substrate supplementation (mannose). Effective in MPI-CDG, but has not shown disease-level benefit in ALG genes like ALG11; not recommended outside trials. NCBI

  4. Pharmacologic chaperones. Small molecules to stabilize partially active ALG11 protein—purely theoretical currently. BioMed Central

  5. HSCT (bone marrow transplant). Used in a few immune CDG forms; not indicated for ALG11-CDG. BioMed Central

  6. Vagus nerve stimulation (device, not drug). Considered for drug-resistant epilepsy as supportive therapy, not disease-modifying. (Specialist evaluation required.)

Surgeries

  1. Gastrostomy tube (G-tube) placement. For unsafe or insufficient oral feeding; ensures safe nutrition and medication delivery.

  2. Nissen fundoplication. If severe reflux causes pain, aspiration, or poor growth despite optimal medical/positioning care.

  3. Cochlear implantation. For severe bilateral sensorineural hearing loss to improve access to sound and language. PubMed

  4. Strabismus surgery. Aligns the eyes to improve vision development and reduce double vision risk. Orpha.net

  5. Orthopedic procedures (e.g., tendon lengthening, scoliosis surgery). For fixed contractures or spinal curves that impair function or breathing.

Prevention & risk-reduction tips

  1. Newborn hearing and vision screening, then regular checks. Early detection changes outcomes. PubMed

  2. Vaccinations per schedule (and flu/pneumonia when eligible). Reduces serious infections. BioMed Central

  3. Seizure safety plan at home and school. Lowers injury risk and speeds rescue care.

  4. Reflux and aspiration precautions. Upright feeds, correct textures, and oral care protect lungs.

  5. Physical therapy and daily stretching. Prevents contractures and pain.

  6. Nutrition monitoring and growth tracking. Prevents malnutrition and micronutrient deficits.

  7. Regular dental care. Lowers aspiration pneumonia risk from poor dentition.

  8. Sick-day plan. Early fluids and medical review during illness reduce dehydration and complications.

  9. Genetic counseling before future pregnancies. Clarifies recurrence risk and testing options. NCBI

  10. Care coordination and clear medication list. Avoids drug interactions and duplications.

When to see a doctor urgently

  • A first seizure, a seizure lasting >5 minutes, or repeated seizures without full recovery.

  • Any choking episode, blue lips, breathing difficulty, or suspected aspiration.

  • Signs of dehydration (no urine for 8–12 hours, dry mouth, sleepiness) or fever in a very young child.

  • Unexplained bruising/bleeding, dark stools, or persistent vomiting.

  • Rapid loss of skills, new severe headaches, or sudden behavior change.

What to eat and what to avoid

What to eat:

  • Energy-dense meals/snacks with adequate protein and healthy fats to support growth.

  • Smooth or soft textures if chewing is weak; use thickened liquids if advised after a swallow study.

  • Fiber and fluids to prevent constipation.

  • Micronutrient-rich foods (iron, zinc, calcium, vitamin D).

  • Fortified formulas or modular calorie adders if growth is slow (dietitian-guided).

What to avoid:

  • Foods that are hard to chew or easy to aspirate (nuts, hard raw veggies) unless safely modified.

  • Large, late meals that worsen reflux; choose small, frequent feeds.

  • Excess added sugars and ultra-processed snacks that displace nutritious intake.

  • Unsupervised “megadose” supplements or internet remedies.

  • Known personal triggers for reflux or seizures (track in a diary).

Frequently Asked Questions

1) What exactly does ALG11 do?
It adds two mannose sugars to the core glycan on a lipid carrier (dolichol) inside the ER. This is required to build the full N-glycan that many proteins need. NCBI+1

2) How is ALG11-CDG inherited?
Autosomal recessive: each parent usually carries one silent mutation; a child gets both to be affected. cdghub.com

3) What symptoms are most typical?
Developmental delay, hypotonia, epilepsy, microcephaly (sometimes progressive), hearing loss, vision problems, feeding issues, and poor growth. PMC+1

4) How is it diagnosed?
By clinical suspicion, transferrin glycoform screening (often shows a type I pattern but can rarely be normal), and confirmatory genetic testing for ALG11 variants. PMC+2Frontiers+2

5) Can transferrin testing be normal?
Yes—rarely. Some proven cases had normal transferrin; genetics then provided the diagnosis. PubMed

6) Is there a cure?
Not yet. Management treats each symptom and prevents complications while research explores future options. BioMed Central

7) Do sugars like mannose help?
Mannose helps a different CDG (MPI-CDG) but not ALG11-CDG; it is not standard therapy here. NCBI

8) What is the outlook?
Severity varies. Some children have severe early disease with progressive brain changes; others are milder. Early supportive care improves quality of life. PMC+1

9) Will my child need a feeding tube?
If eating is unsafe or not enough for growth, a G-tube can provide safe nutrition and reduce hospitalizations.

10) Can hearing be improved?
Yes. Hearing aids or cochlear implants can help, depending on the loss type and severity. Early referral matters. PubMed

11) Which medicines control seizures best?
There is no single best drug; clinicians choose and combine antiseizure medicines based on seizure type and side-effects. PMC

12) Are clinical trials available?
CDG research is active. Ask your team about registries and trials; availability changes over time. BioMed Central

13) Can siblings be tested?
Yes. Genetic counseling can arrange carrier or diagnostic testing for family members. NCBI

14) What specialists should be involved?
Neurology, genetics/metabolism, nutrition, PT/OT/speech, audiology, ophthalmology, gastroenterology, and when needed, pulmonology and orthopedics. NCBI

15) How can families connect with others?
CDG organizations and rare-disease groups provide education and support; your care team can share reputable contacts. Rare Diseases

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: September 12, 2025.

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  21. https://bioresource.nihr.ac.uk/rare
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  30. https://www.orpha.net/en/disease/list
  31. https://www.genetics.edu.au/SitePages/A-Z-genetic-conditions.aspx
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  33. https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en
  34. https://bioportal.bioontology.org/ontologies/ORDO
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  37. https://www.gao.gov/products/gao-25-106774
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  41. https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders
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  43. https://www.nidcd.nih.gov/directory/national-organization-rare-disorders-nord
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  62. https://www.nia.nih.gov/health/topics
  63. https://www.nichd.nih.gov/
  64. https://www.nimh.nih.gov/health/topics
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  68. https://www.nhlbi.nih.gov/health-topics
  69. https://obssr.od.nih.gov/.
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  72. https://beta.rarediseases.info.nih.gov/diseases
  73. https://orwh.od.nih.gov/

 

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