Rare diseases · Sign or symptom
Neurodevelopmental delay
HP:0012758
What it means
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
Though the definitions of NDD vary broadly in the literature, all are used to signify a delay in one or more developmental domains compared to typical development.
Rare diseases that can present with this108
Very common80–99%
24- 14q11.2microduplication syndrome
- 15q overgrowth syndrome
- 20q13.33microdeletion syndrome
- Angelman syndrome due to maternal 15q11q13 deletion
- Bardet-Biedl syndrome
- Bohring-Opitz syndrome
- Cockayne syndrome type 2
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- DDOST-CDG
- DPM1-CDG
- Epilepsy of infancy with migrating focal seizures
- Feingold syndrome type 2
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Kabuki syndrome
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Pyruvate dehydrogenase E3 deficiency
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Sandhoff disease, infantile form
- Schaaf-Yang syndrome
- Schinzel-Giedion syndrome
- Unilateral hemispheric polymicrogyria
Common30–79%
45- ALG6-CDG
- Alternating hemiplegia of childhood
- Argininosuccinic aciduria
- Cerebrotendinous xanthomatosis
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Craniofacial microsomia
- CTCF-related neurodevelopmental disorder
- Dilated cardiomyopathy with ataxia
- DPAGT1-CDG
- Dubowitz syndrome
- Dystonia 28
- Ethylmalonic encephalopathy
- Familial infantile bilateral striatal necrosis
- Familial thyroid dyshormonogenesis
- Hyperlysinemia
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Idiopathic congenital hypothyroidism
- Inverted duplicated chromosome 15 syndrome
- Isolated ATP synthase deficiency
- Isolated lissencephaly type 1 without known genetic defects
- Isolated permanent neonatal diabetes mellitus
- Isolated thyroid-stimulating hormone deficiency
- Lennox-Gastaut syndrome
- Lissencephaly due to LIS1 mutation
- Methylmalonic acidemia with homocystinuria type cblF
- Mowat-Wilson syndrome
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Noonan syndrome
- Oculoskeletodental syndrome
- Opitz GBBB syndrome
- Pyridoxine-dependent-developmental and epileptic encephalopathy
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase E1-beta deficiency
- Resistance to thyrotropin-releasing hormone syndrome
- Revesz syndrome
- Short chain acyl-CoA dehydrogenase deficiency
- SIM1-related Prader-Willi-like syndrome
- Sturge-Weber syndrome
- Trisomy 8p syndrome
- Tuberous sclerosis complex
- Tyrosinemia type 3
- Weiss-Kruszka Syndrome
Sometimes5–29%
11- 11q22.2q22.3microdeletion syndrome
- 7q31microdeletion syndrome
- Activated PI3K-delta syndrome
- Andersen-Tawil syndrome
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Beckwith-Wiedemann syndrome
- Chronic neurovisceral acid sphingomyelinase deficiency
and 3 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
Also called: NDD
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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.