Rare diseases · Sign or symptom
Developmental regression
Loss of developmental milestones
HP:0002376
What it means
Loss of developmental skills, as manifested by loss of developmental milestones.
Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones.
Rare diseases that can present with this148
Very common80–99%
33- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Amelocerebrohypohidrotic syndrome
- Atypical Rett syndrome
- Carnosinase deficiency
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Christianson syndrome
- Dravet syndrome
- Dysosteosclerosis
- Encephalopathy due to sulfite oxidase deficiency
- Epilepsy of infancy with migrating focal seizures
- Febrile infection-related epilepsy syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- GM1 gangliosidosis type 1
- GM2 gangliosidosis, AB variant
- Infantile epileptic spasms syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Menkes disease
- Multiple mitochondrial dysfunctions syndrome type 3
- Multiple mitochondrial dysfunctions syndrome type 4
- Multiple sulfatase deficiency
- NAD(P)HX dehydratase deficiency
- Nasu-Hakola disease
- Neonatal adrenoleukodystrophy
- Pelizaeus-Merzbacher disease
- Peroxisomal acyl-CoA oxidase deficiency
- PLA2G6-related neurodegeneration, infantile-onset
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Rett syndrome
- Sandhoff disease, infantile form
- Trisomy 5p syndrome
- Whipple disease
- Xeroderma pigmentosum
Common30–79%
47- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Adult Refsum disease
- Aicardi-Goutières syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Alpers-Huttenlocher syndrome
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive cutis laxa type 2A
- COG8-CDG
- Combined oxidative phosphorylation defect type 27
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Developmental and epileptic encephalopathy with spike-wave activation in sleep
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Down syndrome
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- Ethylmalonic encephalopathy
- Familial acute necrotizing encephalopathy
- Familial infantile bilateral striatal necrosis
- Flynn-Aird syndrome
- Gaucher disease
- GM1 gangliosidosis
- HSD10 disease
- HSD10 disease, infantile type
- Hyperekplexia-epilepsy syndrome
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Intellectual disability-epilepsy-extrapyramidal syndrome
- Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
- Isolated succinate-CoQ reductase deficiency
- Krabbe disease
- Landau-Kleffner syndrome
- Late-infantile/juvenile Krabbe disease
- Leigh syndrome
- MEGDEL syndrome
- Metachromatic leukodystrophy
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Microphthalmia-brain atrophy syndrome
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 2
- Mucopolysaccharidosis type 3
- Multiple mitochondrial dysfunctions syndrome type 1
- Multiple mitochondrial dysfunctions syndrome type 2
- Multiple mitochondrial dysfunctions syndrome type 5
- Myoclonic epilepsy of infancy
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
Also called: Loss of acquired milestones · Loss of milestones · Mental deterioration in childhood · Neurodevelopmental regression · Psychomotor regression · Psychomotor regression beginning in infancy · Psychomotor regression in infants · Psychomotor regression, progressive
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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.