Rare diseases · Sign or symptom
Neonatal hypoglycemia
Low blood sugar in newborn
HP:0001998
Rare diseases that can present with this27
Very common80–99%
6- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Congenital hyperinsulinism due to HNF4A deficiency
- Hyperinsulinism due to HNF1A deficiency
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Common30–79%
5Sometimes5–29%
13- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Cerebral visual impairment
- Combined oxidative phosphorylation defect type 39
- Dilated cardiomyopathy with ataxia
- Fructose-1,6-bisphosphatase deficiency
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- MODY
and 5 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Neonatal hypoglycemia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.