Intellectual Impairment: Causes & Reasons

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Possible Causes for Intellectual Impairment

Trisomy 12p

DEL 1p36 This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities. [epilepsydiagnosis.org]

and intellectual disability. [rarediseases.org]

There is developmental delay, severe intellectual impairment and epilepsy. Seizures of varied types have been reported, including epileptic spasms. [epilepsydiagnosis.org]

Seckel Syndrome

Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Convex nasal ridge Beaked nose [rarediseases.info.nih.gov]

Intellectual impairment Mental impairment [ more ] 0100543 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis [rarediseases.info.nih.gov]

Listings in the Blue Book may be consulted during the disability review, including: Section 100.02 – Growth impairment Sections 12.05 or 112.05 – Intellectual disability Section [disabilitybenefitscenter.org]

Intellectual Disability

Learning disability aka/or Mental retardation aka/or Oligophrenia aka/or Cognitive development disorder aka/or Educationally sub-normal aka/or ESN aka/or Intellectual impairment [diseasesdatabase.com]

Code based on degree of severity reflecting level of intellectual impairment: 317 Mild Mental Retardation: IQ level 50-55 to approximately 70 318.0 Moderate Mental Retardation [behavenet.com]

[…] subaverage intellectual functioning). [behavenet.com]

Cerebellotrigeminal Dermal Dysplasia

impairment, craniosynostosis, short stature, and craniofacial anomalies. [ncbi.nlm.nih.gov]

Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment [orpha.net]

Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. [ncbi.nlm.nih.gov]

Kanzaki Disease

Format Definition Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. [uniprot.org]

The woman had mild intellectual impairment and peripheral neuroaxonal degeneration. [lymphedemapeople.com]

impairment; and type III is an intermediate disorder (see {609241}) with mild to moderate neurologic manifestations ({2:Desnick and Schindler, 2001}). [diseaseinfosearch.org]

Schindler Disease

This is characterized by angiokeratomas (superficial blood vessel dilation over which a wartlike growth occur), mild intellectual impairment, and peripheral nerve problems [ismrd.org]

Angiokeratomas, an increased coarsening of facial features, and mild intellectual impairment are likely symptoms. Type III is considered an intermediate disorder. [en.wikipedia.org]

Periventricular Leukomalacia

Damage in this area can result in spasticity and intellectual impairment. [neuroradiologycases.com]

PVL is a strikingly common causal factor among children with Cerebral Palsy that leads to intellectual impairment and spasticity that require therapy and treatment. [cerebralpalsy.org]

Periventricular leukomalacia (PVL) occurring in premature infants, represents a major precursor for neurological and intellectual impairment, and cerebral palsy in later life [ncbi.nlm.nih.gov]

Epidermal Nevus

Angora hair nevus syndrome may be associated with seizures, intellectual impairment, and paralysis of one side of the body (hemiparesis). [rarediseases.org]

Neurological abnormalities include seizures, intellectual impairment, muscle weakness, paralysis on one side of the body (hemiparesis), underdevelopment of one side of the [rarediseases.org]

Neurological abnormalities including seizures, intellectual impairment, degeneration of brain cells (cortical atrophy) and underdevelopment of the area of the brain that connects [rarediseases.org]

Optic Atrophy-Intellectual Disability Syndrome

impairment [genatlas.medecine.univ-paris5.fr]

NR2F1 has an important role in the development of the visual system and that haploinsuffiency can lead to optic atrophy with intellectual impairment. [ncbi.nlm.nih.gov]

All affected individuals show mild to moderate intellectual impairment. NR2F1 encodes a nuclear receptor protein that regulates transcription. [ncbi.nlm.nih.gov]

BOD Syndrome

Pre- and postnatal short stature, hypoplastic fifth digits with abnormal phalanges and tiny fingernails, facial dysmorphism, and, in some, mild intellectual impairment were [bio2rdf.org]

The complications of BOD Syndrome may include: Emotional stress due facial deformities Involvement of the heart and lungs Intellectual impairment Complications may occur with [dovemed.com]

impairment). [dermatologyadvisor.com]

Disorder of Sex Development - Intellectual Disability Syndrome

Impaired children experience considerable challenges in two primary areas: intellectual functioning and adaptive behavior. [healthyplace.com]

Although there is no correlation between the size of the CGG repeat (within the full mutation range) and degree of intellectual impairment in males, lower expression of FMRP [intellectualdisability.info]

Cognitive impairment. Mild to moderate intellectual disability, such as issues with thinking, reasoning and problem-solving, is a common feature of the disorder. [mayoclinic.org]

Angelman Syndrome

Angelman syndrome is a rare neurogenetic disorder resulting in delayed neuropsychological development, intellectual disability, speech impairment, movement or balance disorder [ncbi.nlm.nih.gov]

However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. [malacards.org]

Conversely, the cousin, in addition to severe intellectual disability, language impairment, and ataxic gait, has microcephaly. [ncbi.nlm.nih.gov]

Kohlschütter-Tönz Syndrome

Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, spasticity, epilepsy, and amelogenesis imperfecta [ncbi.nlm.nih.gov]

Rogd... more Kohlschutter-Tonz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. [scinapse.io]

impairment, spasticity, epilepsy, and amelogenesis imperfecta. [semanticscholar.org]

Autosomal Dominant Mental Retardation Type 21

Associated defects include intellectual impairment ranging from moderate to severe, and congenital heart defects (often atrial or ventricular septal defects), which occur [diapedia.org]

Format Definition A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested [uniprot.org]

impairments in adaptive behavior and manifested during the developmental period. [malacards.org]

Autosomal Dominant Spastic Paraplegia Type 10

Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Hearing impairment Deafness [rarediseases.info.nih.gov]

[…] movement 0007141 Upper limb amyotrophy 0009129 Varicose veins 0002619 1%-4% of people have these symptoms Ankle clonus Abnormal rhythmic movements of ankle 0011448 Cognitive impairment [rarediseases.info.nih.gov]

McLeod Neuroacanthocytosis Syndrome

While these behavioral changes are typically not progressive, the movement and muscle problems and intellectual impairments tend to worsen with age. [ghr.nlm.nih.gov]

While these behavioral changes are typically not progressive, the movement problems and intellectual impairments that are characteristic of this condition tend to worsen with [book-med.info]

Pallister-Killian Syndrome

Pallister-Killian syndrome (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe intellectual impairment, characteristic facial features, and variable [ncbi.nlm.nih.gov]

Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia [ncbi.nlm.nih.gov]

Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary [ncbi.nlm.nih.gov]

Fragile X Syndrome

Fragile X syndrome is the most common cause of inherited intellectual impairment and has been associated with decreased incidence of cancer. [ncbi.nlm.nih.gov]

The mother who carried the mutation in heterozygous form presented with mild intellectual impairment. [ncbi.nlm.nih.gov]

Afflicted individuals often have elongated features, marfanoid habitus, macroorchidism and intellectual impairment. [ncbi.nlm.nih.gov]

Lennox-Gastaut Syndrome

Her seizure disorder met diagnostic criteria for LGS (SSW on electroencephalogram and multiple seizure types), but there was no intellectual impairment and an interictal alpha [ncbi.nlm.nih.gov]

Ongoing seizures impair development and intellectual functioning. [myvmc.com]

impairment. [myvmc.com]

Autosomal Dominant Spastic Paraplegia Type 4

Their sister IV-4B had intellectual impairment after an episode of meningitis aged 4 months but was otherwise normal. [jnnp.bmj.com]

Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Distal amyotrophy Distal muscle [rarediseases.info.nih.gov]

On examination he had pronounced intellectual impairment and his speech was dysarthric, impoverished, and lacked spontaneity. [jnnp.bmj.com]

Sotos Syndrome

Information is provided relating to physical appearance, intellectual impairment, learning disabilities, language impairments, behavioural disorders and outcome. [ncbi.nlm.nih.gov]

It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal overgrowth, and craniofacial dysmorphism. [ncbi.nlm.nih.gov]

People with Sotos syndrome often have intellectual impairment, and most also have behavioral problems. Problems with speech and language are also common. [diseaseinfosearch.org]

Cerebral Palsy with Spastic Diplegia

She had some delays in her motor skills, but the primary manifestation of the CP for Layla is a speech delay and intellectual impairment. [theartofsimple.net]

Intellectual development is generally normal, however severe dysarthria makes communication difficult and leads the outsider to think that the child has intellectual impairment [physio-pedia.com]

Intellectual impairment may be mild and dystonia may be a prominent feature. Fundoscopy may reveal cherry red spots. [adc.bmj.com]

48,XXYY Syndrome

impairment. [rarediseases.org]

Presentation Developmental delays Speech impairment Behavior outburst and mood swings Learning disabilities Intellectual impairment ADHD symptoms Autism spectrum disorders [monsterologist.blogspot.com]

[…] affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual [rarediseases.org]

Mucopolysaccharidosis Type 1

impairment. [orpha.net]

[…] diagnosis Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; see this term) resembles mucopolysaccharidosis type I in many aspects, MPS VI patients, however, never have intellectual [orpha.net]

Profound Intellectual Disability

Code based on degree of severity reflecting level of intellectual impairment: 317 Mild Mental Retardation: IQ level 50-55 to approximately 70 318.0 Moderate Mental Retardation [behavenet.com]

impairment, known as mental retardation in the past. — Maura Dolan, latimes.com, "California Supreme Court overturns killer's death sentence, citing intellectual disability [merriam-webster.com]

[…] subaverage intellectual functioning). [behavenet.com]

Oculocerebrorenal Syndrome

impairment, Mental retardation Skeletal - Vitamin D Resistant Rickets Picture: Young boy with Lowe's syndrome. [medicalchemy-syndromes.blogspot.com]

Babies are born with bi-lateral cataracts, hypotomia (muscle weakness), kidney problems (wasting of essential nutrients) impaired growth, intellectual impairment and later [lowetrust.com]

It is characterized by congenital cataracts, infantile glaucoma, neonatal or infantile hypotonia, intellectual impairment, and renal tubular dysfunction (Fanconi syndrome) [emedicine.com]

Alpha-Mannosidosis

This leads to a broad spectrum of neurological manifestations, including progressive intellectual impairment, disturbed motor functions, and cerebellar atrophy. [ncbi.nlm.nih.gov]

In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections [ncbi.nlm.nih.gov]

Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. [ncbi.nlm.nih.gov]

Neonatal Graves' Disease

Thyroid, 9, 727-733. http://dx.doi.org/10.1089/thy.1999.9.727 [ 10 ] Daneman, D. and Howard, N.J. (1980) Neonatal Thyrotoxicosis: Intellectual Impairment and Craniosynostosis [scirp.org]

Long-term risks of this condition include intellectual impairment, developmental problems, growth retardation, and craniosynostosis. 12 It is unclear what relationship the [acgcasereports.gi.org]

Daneman D, Howard NJ. 1980 Neonatal thyrotoxicosis: intellectual impairment and craniosynostosis in later years. J Pediatr. 97:257–259. PubMed CrossRef Google Scholar 8. [link.springer.com]

Neurodegeneration with Brain Iron Accumulation

The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance [ncbi.nlm.nih.gov]

impairment and seizures later in the disease course… CoPAN CoPAN (COASY Protein-Associated Neurodegeneration) is an NBIA disorder that is characterized by spaticity and weakness [nbiacure.org]

Intellectual impairment is typical and may be progressive. [ajnr.org]

Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B) [kegg:H00590] rdfs [bio2rdf.org]

The first attempt to formally classify congenital muscular dystrophies divided them into “classical” congenital muscular dystrophy without intellectual impairment or overt [medlink.com]

Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in [ncbi.nlm.nih.gov]