Rare diseases · Sign or symptom
Autistic behavior
HP:0000729
What it means
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. If possible, we recommend annotating using more specific terms.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this173
Very common80–99%
18- 2q23.1microduplication syndrome
- 49,XXXYY syndrome
- 5q14.3microdeletion syndrome
- Angelman syndrome
- Atypical Rett syndrome
- Childhood disintegrative disorder
- Distal Xq28 microduplication syndrome
- Helsmoortel-Van der Aa syndrome
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Inverted duplicated chromosome 15 syndrome
- Macrocephaly-intellectual disability-autism syndrome
- MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Proximal 16p11.2 microdeletion syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Wolfram-like syndrome
- X-linked intellectual disability, Cantagrel type
- Xq12-q13.3 duplication syndrome
Common30–79%
61- 17q21.31microduplication syndrome
- 1p21.3microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- 8q24.3microdeletion syndrome
- Angelman syndrome due to maternal 15q11q13 deletion
- ANK3-related intellectual disability-sleep disturbance syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Bainbridge-Ropers syndrome
- CDKL5-deficiency disorder
- Childhood-onset schizophrenia
- CTCF-related neurodevelopmental disorder
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Distal 16p11.2 microdeletion syndrome
- Distal 7q11.23 microduplication syndrome
- Distal deletion 15q syndrome
- Dravet syndrome
- DYRK1A-related intellectual disability syndrome
- Folinic acid-responsive seizures
- FOXG1 syndrome
- FOXP1 Syndrome
- FRAXE intellectual disability
- Fried syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Houge-Janssens syndrome type 1
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Joubert syndrome with oculorenal defect
- Kleefstra syndrome
- Landau-Kleffner syndrome
- Lennox-Gastaut syndrome
- Leukocyte adhesion deficiency type II
- Menke-Hennekam syndrome
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Non-progressive cerebellar ataxia with intellectual disability
- Optic atrophy-intellectual disability syndrome
- Phelan-McDermid syndrome
- Placental insufficiency
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- Proximal 16p11.2 microduplication syndrome
- Ring chromosome 22 syndrome
- Rubinstein-Taybi syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
- SIN3-related intellectual disability syndrome due to a point mutation
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- SYNGAP1-related developmental and epileptic encephalopathy
- Tuberous sclerosis complex
- Weiss-Kruszka Syndrome
- White-Sutton syndrome
- X-linked creatine transporter deficiency
- X-linked intellectual disability-cerebellar hypoplasia syndrome
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- X-linked intellectual disability-hypotonia-movement disorder 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: ASD · Autism spectrum disorder · Autism spectrum disorders · Autistic behaviors · Autistic behaviour · Autistic behaviours · Pervasive developmental disorder
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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.