Rare diseases · Sign or symptom
Global developmental delay
HP:0001263
What it means
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication.
Rare diseases that can present with this763
Always100%
6Very common80–99%
74- 10q22.3q23.3microdeletion syndrome
- 12q14microdeletion syndrome
- 14q22q23microdeletion syndrome
- 15q11q13microduplication syndrome
- 15q24microdeletion syndrome
- 16p11.2p12.2microdeletion syndrome
- 16p13.11microdeletion syndrome
- 17p11.2microduplication syndrome
- 17p13.3microduplication syndrome
- 17q21.31microduplication syndrome
- 19p13.12microdeletion syndrome
- 19p13.3microduplication syndrome
- 1p21.3microdeletion syndrome
- 1p31p32microdeletion syndrome
- 1p36deletion syndrome
- 1q21.1microduplication syndrome
- 1q41q42microdeletion syndrome
- 1q44microdeletion syndrome
- 20p12.3microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- 2p21microdeletion syndrome
- 2q23.1microduplication syndrome
- 2q31.1microdeletion syndrome
- 2q32q33deletion syndrome
- 2q37microdeletion syndrome
- 3C syndrome
- 3-methylglutaconic aciduria type 4
- 3q29microdeletion syndrome
- 48,XXXY syndrome
- 48,XXYY syndrome
- 48,XYYY syndrome
- 49,XXXXY syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- 4q21microdeletion syndrome
- 6q16microdeletion syndrome
- 6q25.2q25.3microdeletion syndrome
- 6q terminal deletion syndrome
- 7p22.1microduplication syndrome
- 8p11.2deletion syndrome
- 8p23.1microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- 8q12microduplication syndrome
- 8q24.3microdeletion syndrome
- ABetaL34V amyloidosis
- Acromelic frontonasal dysplasia
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Aicardi-Goutières syndrome
- ALDH18A1-related De Barsy syndrome
- ALG11-CDG
- ALG1-CDG
- ALG3-CDG
- ALG9-CDG
- Alpha-mannosidosis
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Alpha-N-acetylgalactosaminidase deficiency type 3
- Angelman syndrome due to maternal 15q11q13 deletion
- Aniridia-cerebellar ataxia-intellectual disability syndrome
- Argininemia
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Aromatic L-amino acid decarboxylase deficiency
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive cutis laxa type 2A
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive frontotemporal pachygyria
- Autosomal recessive primary microcephaly
- Autosomal recessive spastic paraplegia type 54
- Autosomal recessive spastic paraplegia type 75
- Autosomal spastic paraplegia type 18
- Aymé-Gripp syndrome
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Bainbridge-Ropers syndrome
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, and Orphanet separately records 3 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cognitive delay · Delayed cognitive development · Delayed development · Delayed developmental milestones · Delayed intellectual development · Delayed milestones · Delayed psychomotor development · Developmental delay
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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.