Rare diseases · Sign or symptom
Moderate global developmental delay
HP:0011343
What it means
A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
Rare diseases that can present with this26
Very common80–99%
12- 17q23.1q23.2microdeletion syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- Aicardi syndrome
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Paternal 20q13.2q13.3 microdeletion syndrome
- Paternal uniparental disomy of chromosome X syndrome
- Severe X-linked mitochondrial encephalomyopathy
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Xp22.13p22.2duplication syndrome
- Xq12-q13.3 duplication syndrome
Common30–79%
8- Blepharophimosis-intellectual disability syndrome, Verloes type
- CDKL5-deficiency disorder
- Cerebello-oculo-facio-genital syndrome
- Distal 17p13.1 microdeletion syndrome
- Helsmoortel-Van der Aa syndrome
- HSD10 disease, infantile type
- PGM3-CDG
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Sometimes5–29%
4The 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, moderate · Psychomotor retardation, moderate
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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.