Rare diseases · Sign or symptom
Reduced social responsiveness
Poor social interactions
HP:0012760
What it means
A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.
Reciprocity can be assessed by determining the extent to which a child demonstrates activity similar to that of peers or of the examiner (e.g., playing the same game), shows turn-taking behavior, or recognizes the intentions of the other person and contributes to an activity that a peer or the examiner has initiated. In the diagnostic process, it may be difficult to decide whether limitations in social behavior of children with intellectual disability (ID) are due to a co-occurring autism spectrum disorder (ASD) and are often unduly attributed to the ID, a phenomenon also known as diagnostic overshadowing. This term is intended to apply to impaired social reciprocity that is not attributed to ID.
Rare diseases that can present with this27
Very common80–99%
6Common30–79%
8- 47,XYY syndrome
- Atypical Rett syndrome
- Childhood disintegrative disorder
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- X-linked intellectual disability-cerebellar hypoplasia syndrome
Sometimes5–29%
12- 7q11.23microduplication syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Epilepsy with myoclonic-atonic seizures
- FOXG1 syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Mowat-Wilson syndrome
- Prader-Willi syndrome due to translocation
- Proximal 16p11.2 microdeletion syndrome
and 4 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: Impaired social interaction · Impaired social interactions · Impaired social reciprocity
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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.