Rare diseases · Sign or symptom
Mild intellectual disability
Intellectual disability, mild
HP:0001256
What it means
Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.
Rare diseases that can present with this213
Always100%
2Very common80–99%
60- 12q14microdeletion syndrome
- 14q11.2microdeletion syndrome
- 17p11.2microduplication syndrome
- 17q24.2microdeletion syndrome
- 1p21.3microdeletion syndrome
- 48,XXXY syndrome
- 48,XYYY syndrome
- 6p22microdeletion syndrome
- 6q25.2q25.3microdeletion syndrome
- 6q terminal deletion syndrome
- 8p23.1microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- Acrofacial dysostosis, Catania type
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- Alpha-mannosidosis, adult form
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 14
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Bonnemann-Meinecke-Reich syndrome
- Cataract-ataxia-deafness syndrome
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Distal 7q11.23 microduplication syndrome
- Distal deletion 6p syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- Lesch-Nyhan syndrome
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Microcephaly-cervical spine fusion anomalies syndrome
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Microphthalmia-ankyloblepharon-intellectual disability syndrome
- Monosomy 13q34 syndrome
- Myoclonic epilepsy of infancy
- Neurofibromatosis type 1
- Non-progressive cerebellar ataxia with intellectual disability
- Otoonychoperoneal syndrome
- Otopalatodigital syndrome type 1
- Paternal 20q13.2q13.3 microdeletion syndrome
- Paternal uniparental disomy of chromosome X syndrome
- Pelizaeus-Merzbacher disease, classic form
- Sialuria
- SIN3-related intellectual disability syndrome due to a point mutation
- Trisomy 18p syndrome
- Wieacker-Wolff syndrome
- Woodhouse-Sakati syndrome
- X-linked intellectual disability-ataxia-apraxia syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability, Porteous type
- X-linked intellectual disability, Siderius type
- X-linked intellectual disability, Van Esch type
- Xq27.3q28duplication syndrome
- XY type gonadal dysgenesis-associated anomalies syndrome
Common30–79%
18- 14q24.1q24.3microdeletion syndrome
- 22q11.2deletion syndrome
- 5q22microdeletion syndrome
- 7q11.23microduplication syndrome
- 9q31.1q31.3microdeletion syndrome
- Acropectorovertebral dysplasia
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ALG1-CDG
- Alpha-mannosidosis, infantile form
- Angelman syndrome due to a point mutation
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- Autosomal recessive ataxia due to PEX10 deficiency
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- Autosomal recessive spastic ataxia with leukoencephalopathy
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 67
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: Mental retardation, borderline-mild · Mental retardation, mild · Mild and nonprogressive mental retardation · Mild mental retardation
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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.