Intellectual disability (ID) begins during childhood and involves deficits in mental abilities, social skills, and core activities of daily living (ADLs) when compared to same-aged peers. There often are no physical signs of mild forms of ID, although there may be characteristic physical traits when it is associated with a genetic disorder (e.g., Down syndrome).

The level of impairment ranges in severity for each person. Some of the early signs can include:

- Delays in reaching or failure to achieve milestones in motor skills development (sitting, crawling, walking)

- Slowness learning to talk or continued difficulties with speech and language skills after starting to talk

- Difficulty with self-help and self-care skills (e.g., getting dressed, washing, and feeding themselves)

- Poor planning or problem solving abilities

- Behavioral and social problems

- Failure to grow intellectually or continued infant-like behavior

- Problems keeping up in school

- Failure to adapt or adjust to new situations

- Difficulty understanding and following social rules

In early childhood, mild ID (IQ 50–69) may not be obvious or identified until children begin school. Even when poor academic performance is recognized, it may take expert assessment to distinguish mild intellectual disability from specific learning disability or emotional/behavioral disorders. People with mild ID are capable of learning reading and mathematics skills to approximately the level of a typical child aged nine to twelve. They can learn self-care and practical skills, such as cooking or using the local mass transit system. As individuals with intellectual disability reach adulthood, many learn to live independently and maintain gainful employment.

Moderate ID (IQ 35–49) is nearly always apparent within the first years of life. Speech delays are particularly common signs of moderate ID. People with moderate intellectual disability need considerable supports in school, at home, and in the community in order to fully participate. While their academic potential is limited, they can learn simple health and safety skills and to participate in simple activities. As adults, they may live with their parents, in a supportive group home, or even semi-independently with significant supportive services to help them, for example, manage their finances. As adults, they may work in a sheltered workshop.

People with severe or profound ID need more intensive support and supervision their entire lives. They may learn some ADLs, but an intellectual disability is considered severe or profound when individuals are unable to independently care for themselves without ongoing significant assistance from a caregiver throughout adulthood. Individuals with profound ID are completely dependent on others for all ADLs and to maintain their physical health and safety, although they may be able to learn to participate in some of these activities to limited degree.

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ score under 70 in addition to deficits in two or more adaptive behaviors that affect everyday, general living.

Once focused almost entirely on cognition, the definition now includes both a component relating to mental functioning and one relating to individuals' functional skills in their environments. As a result of this focus on the person's abilities in practice, a person with an unusually low IQ may not be considered to have intellectually disability.

Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and behavioral signs and symptoms are present, and non-syndromic intellectual disability, in which intellectual deficits appear without other abnormalities. Down syndrome and fragile X syndrome are examples of syndromic intellectual disabilities.

Intellectual disability affects about 2–3% of the general population. Seventy-five to ninety percent of the affected people have mild intellectual disability. Non-syndromic or idiopathic cases account for 30–50% of cases. About a quarter of cases are caused by a genetic disorder, and about 5% of cases are inherited from a person's parents. Cases of unknown cause affect about 95 million people as of 2013.

Borderline intellectual functioning, also called borderline mental disability, is a categorization of intelligence wherein a person has below average cognitive ability (generally an IQ of 70–85), but the deficit is not as severe as intellectual disability (below 70). It is sometimes called below average IQ (BAIQ). This is technically a cognitive impairment; however, this group may not be sufficiently mentally disabled to be eligible for specialized services. The DSM-IV-TR codes borderline intellectual functioning as V62.89.

During school years, individuals with borderline intellectual functioning are often "slow learners." Although a large percentage of this group fails to complete high school and can often achieve only a low socioeconomic status, most adults in this group blend in with the rest of the population.

There are a variety of medical conditions affecting cognitive ability. This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability, deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through acquired brain injuries or neurodegenerative diseases like dementia. These disabilities may appear at any age.

Global developmental delay is an umbrella term used when children are significantly delayed in their cognitive and physical development. There is usually a more specific condition which causes this delay, such as Fragile X syndrome or other chromosonal abnormalities. However, it is sometimes difficult to identify this underlying condition.

Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development).

Learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner. Therefore, some people can be more accurately described as having a "Learning Difference", thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereotyping.

In the UK, the term "learning disability" generally refers to an intellectual disability, while difficulties such as dyslexia and dyspraxia are usually referred to as "learning difficulties".

While "learning disability, learning disorder" and "learning difficulty" are often used interchangeably, they differ in many ways. Disorder refers to significant learning problems in an academic area. These problems, however, are not enough to warrant an official diagnosis. Learning disability, on the other hand, is an official clinical diagnosis, whereby the individual meets certain criteria, as determined by a professional (psychologist, pediatrician, etc.). The difference is in degree, frequency, and intensity of reported symptoms and problems, and thus the two should not be confused. When the term "learning disorder" is used, it describes a group of disorders characterized by inadequate development of specific academic, language, and speech skills. Types of learning disorders include reading (dyslexia), mathematics (dyscalculia) and writing (dysgraphia).

The unknown factor is the disorder that affects the brain's ability to receive and process information. This disorder can make it problematic for a person to learn as quickly or in the same way as someone who is not affected by a learning disability. People with a learning disability have trouble performing specific types of skills or completing tasks if left to figure things out by themselves or if taught in conventional ways.

Individuals with learning disabilities can face unique challenges that are often pervasive throughout the lifespan. Depending on the type and severity of the disability, interventions, and current technologies may be used to help the individual learn strategies that will foster future success. Some interventions can be quite simplistic, while others are intricate and complex. Current technologies may require student training to be effective classroom supports. Teachers, parents, and schools can create plans together that tailor intervention and accommodations to aid the individuals in successfully becoming independent learners. School psychologists and other qualified professionals quite often help design the intervention and coordinate the execution of the intervention with teachers and parents.

Intellectual disability, also known as "general learning disability", and previously known as "mental retardation" (a term now widely considered to be offensive), is a generalized disorder characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors that appears before adulthood. It has historically been defined as an Intelligence Quotient (IQ) score under 70, but the definition now includes both one component relating to mental functioning and one relating to individuals' functional skills in their environment, so IQ is not the only factor.

Intellectual disability must have appeared in the developmental period, not only as an adult. By contrast, people with cognitive impairment have, or previously had, normal IQ, but now show confusion, forgetfulness and difficulty concentrating; cognitive impairment is typical of brain injuries, side effects from medications, and dementia. Many of these disabilities have an effect on memory, which refers to the ability to recall what has been learned over time. Typically memory is moved from sensory memory to working memory then finally into long term memory. People with cognitive disabilities typically will have have trouble with one of these types of memory.

Affected newborns generally have striking neurological defects and seizures. Severely impaired development is common, but disturbances in motor functions may not appear until later in life.

Infants with microcephaly are born with either a normal or reduced head size. Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and intellectual disability are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from in some to spastic quadriplegia in others.

Overactive disorder associated with mental retardation and stereotyped movements is a pervasive developmental disorder (PDD) listed in Chapter V(F) of the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10); its diagnostic code is F84.4.

Hyperlexic children are characterized by word-reading ability well above what would be expected given their ages and IQs. Hyperlexia can be viewed as a superability in which word recognition ability goes far above expected levels of skill. However, in spite of few problems with decoding, comprehension is poor. Some hyperlexics also have trouble understanding speech. Most or perhaps all children with hyperlexia lie on the autism spectrum. Between 5–10% of autistic children have been estimated to be hyperlexic.

Late talker is a term used for exceptionally bright people who experience a delay in the development of speech. Commonalities include usually being boys, delayed speech development, highly educated parents, musically gifted families, puzzle-solving abilities, and lagging social development. Many high-achieving late talkers were notoriously strong willed and noncompliant as children. Late talkers can often be misdiagnosed early on as having severe ("low-functioning") autism spectrum disorder (a category known simply as "autism", prior to the DSM-5), and careful professional evaluation is necessary for differential diagnosis, according to Darold Treffert and other experts. One major difference between late talkers and low-functioning autistic children is that for late talkers, communication skills automatically reach a normal level and the child requires no further special treatment with regards to speech. Outlook for late talkers with or without intervention is generally favorable. However, late language emergence can also be an early or secondary sign of high-functioning autism spectrum disorder / Asperger syndrome, or other developmental disorders, such as attention deficit hyperactivity disorder, intellectual disability, learning disability, social communication disorder, or specific language impairment.

Einstein syndrome, a term coined by the economist Thomas Sowell, is also sometimes used to describe late talkers. The term is named after Albert Einstein (often said to have been a late talker, though with questionable evidence), whom Sowell used as the primary example of a late talker in his work. Sowell also included Edward Teller, Srinivasa Ramanujan, the mathematician Julia Robinson, Richard Feynman, and the pianists Clara Schumann and Arthur Rubinstein to be in the late talkers group. As a toddler, the scientist John Clive Ward showed similar behavioral traits to those described by Sowell, according to a brief sketch of his biography.

Sowell claimed late talkers are often inaccurately categorized as having an autism spectrum disorder (ASD), and that a small subset of late talkers are highly intelligent children with common characteristics concentrated in music, memory, math or the sciences. However, as reported by Simon Baron-Cohen, such characteristics are often found in high-functioning autism / Asperger syndrome.

Dyslexia is a learning disability that manifests itself as a difficulty with word decoding and/or reading fluency. Comprehension may be affected as a result of difficulties with decoding, but is not a primary feature of dyslexia. It is separate and distinct from reading difficulties resulting from other causes, such as a non-neurological deficiency with vision or hearing, or from poor or inadequate reading instruction. It is estimated that dyslexia affects between 5–17% of the population. Dyslexia has been proposed to have three cognitive subtypes (auditory, visual and attentional), although individual cases of dyslexia are better explained by the underlying neuropsychological deficits and co-occurring learning disabilities (e.g. attention-deficit/hyperactivity disorder, math disability, etc.). Although not an intellectual disability, it is considered both a learning disability and a reading disability.

Dyslexia and IQ are not interrelated, since reading and cognition develop independently in individuals who have dyslexia."Nerve problems can cause damage to the control of eye muscles which can also cause diplopia" (WEBMD, 2005)

Microcephaly is a type of cephalic disorder. It has been classified in two types based on the onset:

Micro syndrome also known as WARBM, and Warburg–Sjo–Fledelius syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, intellectual or developmental disability, optic atrophy, and hypogenitalism.

People with Renpenning's typically begin learning language at an ordinary pace, but by the age of 3–4 they experience a regression in mental and physical development, such as mild low muscle tone resulting in elongated faces and rapid loss in the normal growth of the head (microcephaly). Small testes and short stature are also known to commonly occur.

Representatives of organizations committed to the education and welfare of individuals with learning disabilities are known as National Joint Committee on Learning Disabilities (NJCLD). The NJCLD used the term 'learning disability' to indicate a discrepancy between a child’s apparent capacity to learn and his or her level of achievement. Several difficulties existed, however, with the NJCLD standard of defining learning disability. One such difficulty was its belief of central nervous system dysfunction as a basis of understanding and diagnosing learning disability. This conflicted with the fact that many individuals who experienced central nervous system dysfunction, such as those with cerebral palsy, did not experience disabilities in learning. On the other hand, those individuals who experienced multiple handicapping conditions along with learning disability frequently received inappropriate assessment, planning, and instruction. The NJCLD notes that it is possible for learning disability to occur simultaneously with other handicapping conditions, however, the two should not be directly linked together or confused.

In the 1980s, NJCLD, therefore, defined the term learning disability as: a heterogeneous group of disorders manifested by significant difficulties in the acquisition and use of listening, speaking, reading, writing, reasoning or mathematical abilities. These disorders are intrinsic to the individual and presumed to be due to Central Nervous System Dysfunction. Even though a learning disability may occur concomitantly with other handicapping conditions (e.g. sensory impairment, intellectual disability, social and emotional disturbance) or environmental influences (e.g. cultural differences, insufficient/inappropriate instruction, factors) it is not the direct result of those conditions or influences.

The 2002 LD Roundtable produced the following definition:Concept of LD: Strong converging evidence supports the validity of the concept of specific learning disabilities (SLD). This evidence is particularly impressive because it converges across different indicators and methodologies. The central concept of SLD involves disorders of learning and cognition that are intrinsic to the individual. SLD are specific in the sense that these disorders each significantly affect a relatively narrow range of academic and performance outcomes. SLD may occur in combination with other disabling conditions, but they are not due primarily to other conditions, such as intellectual disability, behavioral disturbance, lack of opportunities to learn, or primary sensory deficits.The issue of defining learning disabilities has generated significant and ongoing controversy. The term "learning disability" does not exist in DSM-IV, but it has been added to DSM-5. The DSM-5 does not limit learning disorders to a particular diagnosis such as reading, mathematics and written expression. Instead, it is a single diagnosis criterion describing drawbacks in general academic skills and includes detailed specifiers for the areas of reading, mathematics, and written expression.

Micro syndrome can be identified in people several ways, one of the most common is ocular problems or other physical traits that don't appear natural. It is especially easy to identify micro syndrome in infants and in younger children. Intellectual or developmental disabilities can seriously affect a patient in the way they think and move. So far according to studies all patients have had serious intellectual or developmental disabilities, and hypotonia is found in all the patients during infancy.

Common signs of Say–Meyer syndrome are trigonocephaly as well as head and neck symptoms. The head and neck symptoms come in the form of craniosynostosis affecting the metopic suture (the dense connective tissue structure that divides the two halves of the skull in children which usually fuse together by the age of six). Symptoms of Say–Meyer syndrome other than developmental delay and short stature include

- Intellectual disability.

- Low-set ears/posteriorly rotated ears

- Intellectual deficit as well as learning disability

- Intrauterine growth retardation (poor growth of a baby while it is in the mother's womb)

- Posterior fontanel

- Premature synostosis of the lambdoid suture (the fusion of the bones to the joint is premature)

- Narrow forehead

- Trigonocephaly (a frontal bone anomaly that is characterized by a premature fusion of the bones which gives the forehead a triangular shape)

- Hypotelorism or hypertelorism (reduced or increased width between the eyes)

- Craniosynostosis (when one or more seam-like junctions between two bones fuses by turning into bone. This changes the growth pattern of the skull)

- Low birth weight and height

The affected patients sometimes show a highly arched palate, clinodactyly (a defect in which toes or fingers are positioned abnormally) and ventricular septal defect (a heart defect that allows blood to pass directly from left to the right ventricle which is caused by an opening in the septum). Overall, Say–Meyer syndrome impairs growth, motor function, and mental state.

As an infant, the individual with intellectual disability might sit up, crawl, or walk later than what is developmentally appropriate. He or she may have trouble talking or learn to talk late. The infant with intellectual disability will probably have trouble learning to potty train, feeding himself or herself, remembering things, with problem-solving, and may have recurrent explosive tantrums.

Some symptoms that a child with intellectual disability might show are continued infant-like behavior, a lack of curiosity, the inability to meet educational demands, learning ability that is below average, and the failure to meet developmentally appropriate intellectual goals. Some children with severe intellectual disability may have seizures, mobility problems, vision problem, or hearing problems.

Psychopathology and related behavioral abnormalities are typically seen in LFS, and they may be considered in the diagnosis of the disorder. The most common of these in LFS is an autism-like spectrum disorder, and LFS is considered as one of a number of genetic disorders associated with autism. Additional alterations of psychopathology with behavioral manifestations that have been observed in LFS include: psychotic behavior, schizophrenia, hyperactivity and attention-deficit hyperactivity disorder, aggression, oppositional defiant disorder, obsessive compulsive disorder, extreme shyness, learning disability, cognitive impairment, short-term memory deficit, low frustration tolerance, social dysfunction, lack of impulse control, eating disorder and associated malnutrition, attributed to psychogenic loss of appetite; and pyromania.

While psychiatric conditions like these are to be expected with LFS, there have also been cases of the disorder with some preservation of mental and behavioral abilities, such as problem solving, reasoning and normal intelligence.

The psychopathology of LFS usually exhibits schizophrenia. When schizophrenia is diagnosed in an individual known to be affected by intellectual disability, LFS may be considered in the differential diagnosis of schizophrenia, with confirmation of cause through appropriate psychiatric and genetic evaluation methods.

This is an ill-defined disorder of uncertain nosological validity. The category is included here because of the evidence that children with moderate to severe intellectual disability (IQ below 35) who exhibit major problems in hyperactivity and inattention frequently show stereotyped behaviours; such children tend not to benefit from stimulant drugs (unlike those with an IQ in the normal range) and may exhibit a severe dysphoric reaction (sometimes with psychomotor retardation) when given stimulants; in adolescence the overactivity tends to be replaced by underactivity (a pattern that is not usual in hyperkinetic children with normal intelligence). It is also common for the syndrome to be associated with a variety of developmental delays, either specific or global. The extent to which the behavioural pattern is a function of low IQ or of organic brain damage is not known, neither is it clear whether the disorders in children with mild intellectual disability who show the hyperkinetic syndrome would be better classified here or under F90.- (Hyperkinetic disorders); at present they are included in F90-.

Diagnostic guidelines

Diagnosis depends on the combination of developmentally inappropriate severe overactivity, motor stereotypies, and moderate to severe intellectual disability; all three must be present for the diagnosis. If the diagnostic criteria for F84.0 (childhood autism), F84.1 (atypical autism) or F84.2 (Rett's syndrome) are met, that condition should be diagnosed instead.

Symptoms of M2DS include infantile hypotonia and failure to thrive, delayed psychomotor development, impaired speech, abnormal or absent gait, epilepsy, spasticity, gastrointestinal motility problems, recurrent infections, and genitourinary abnormalities. Many of those affected by M2DS also fit diagnostic criteria for autism. M2DS can be associated with syndromic facies, namely an abnormally flat back of the head, underdevelopment of the midface, ear anomalies, deep-set eyes, prominent chin, pointed nose, and a flat nasal bridge.

Children with Weaver syndrome tend to look similar and have distinctive physical and craniofacial characteristics, which may include several, but not all of the following features:

- Macrocephaly

- Large bifrontal diameter

- Flattened occiput

- Long philtrum

- Retrognathia

- Round face in infancy

- Prominent chin crease

- Large ears

- Strabismus

- Hypertelorism

- Epicanthal folds

- Downslanting palpebral fissures

Other features may include loose skin, thin deep-set nails, thin hair, short ribs, limited elbow and knee extension, camptodactyly, and a coarse, low-pitched voice. Delayed development of motor skills such as sitting, standing, and walking are commonly exhibited in early childhood. Patients with Weaver syndrome typically have mild intellectual disability with poor coordination and balance. They also have some neurological abnormalities such as speech delay, epilepsy, intellectual disability, hypotonia or hypertonia, and behavioral problems.

Intellectual disability in children can be caused by genetic or environmental factors. The individual could have a natural brain malformation or pre or postnatal damage done to the brain caused by drowning or a traumatic brain injury, for example. Nearly 30 to 50% of individuals with intellectual disability will never know the cause of their diagnosis even after thorough investigation.

Prenatal causes of intellectual disability include:

- Congenital infections such as cytomegalovirus, toxoplasmosis, herpes, syphilis, rubella and human immunodeficiency virus

- Prolonged maternal fever in the first trimester

- Exposure to anticonvulsants or alcohol

- Untreated maternal phenylketonuria (PKU)

- Complications of prematurity, especially in extremely low-birth-weight infants

- Postnatal exposure to lead

Single-gene disorders that result in intellectual disability include:

- Fragile X syndrome

- Neurofibromatosis

- Tuberous sclerosis

- Noonan's syndrome

- Cornelia de Lange's syndrome

These single-gene disorders are usually associated with atypical physical characteristics.

About 1/4 of individuals with intellectual disability have a detectable chromosomal abnormality. Others may have small amounts of deletion or duplication of chromosomes, which may go unnoticed and therefore, undetermined.

LFS is clinically distinguished from other X-linked forms of intellectual disability by the accompanying presence of marfanoid habitus. Marfanoid habitus describes a group of physical features common to Marfan syndrome. Including Marfan syndrome and LFS, marfanoid features of this type have also been observed with several other disorders, one of which is multiple endocrine neoplasia type 2.

In LFS, specific features identified as marfanoid include: a long, narrow face; tall, thin stature; long, slender limbs, fingers and toes (not unlike arachnodactyly) with joint hyperextensibility, shortened halluces (the big toes) and long second toes.

The diagnosis of marfanoid habitus in LFS is often delayed because many of the physical features and characteristics associated with it are usually not evident until adolescence.