Rare diseases · Sign or symptom
Profound global developmental delay
HP:0012736
What it means
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Rare diseases that can present with this12
Very common80–99%
6Common30–79%
5- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- KCNQ2-related developmental and epileptic encephalopathy
- Lissencephaly syndrome, Norman-Roberts type
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
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: Global developmental delay, profound · Psychomotor retardation, profound
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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.