Intellectual Impairment: Causes & Reasons

Possible Causes for Intellectual Impairment

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]

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 and [globalgenes.org]

Other typical findings are skull abnormalities, craniofacial dysmorphism, short stature and intellectual impairment [1-3]. [eurorad.org]

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]

impairment, neurological dysfunction and seizures to milder neurological and psychiatric issues such as speech and language delays or mild autism-like symptoms. [orpha.net]

Periventricular Leukomalacia

Damage in this area can result in spasticity and intellectual impairment. [cerebralpalsy.org]

[…] sepsis, Maternal cocaine use Clinical presentation: Periventricular leukomalacia is difficult to detect in newborns, as very young infants typically do not show signs of impairment [neuroradiologycases.com]

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]

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]

Angelman Syndrome

Angelman syndrome (AS) is a rare disorder that causes neurodevelopmental issues such as intellectual disability, impaired speech and motor skills, epilepsy and sleep disruptions [innovationdistrict.childrensnational.org]

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]

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]

McLeod Neuroacanthocytosis Syndrome

While these behavioral changes are typically not progressive, the movement and muscle problems and intellectual impairments tend to worsen with age. [medlineplus.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 [rareguru.com]

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]

Kohlschütter-Tönz Syndrome

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

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]

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]

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]

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]

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]

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]

Baker-Gordon Syndrome

Walking and speech are delayed and moderate to profound intellectual impairment is virtually always present. [disorders.eyes.arizona.edu]

intellectual development. [findzebra.com]

There is general developmental delay with impaired intellectual development, delayed or absent walking, and behavioral psychiatric manifestations such as stereotypic and unpredictable [disorders.eyes.arizona.edu]

Neurodevelopmental Disorder with Impaired Intellectual Development - Hypotonia - Ataxia

Intellectual disability, communication disorders, autism spectrum disorder, attention deficit / hyperactivity disorder, specific learning disorder and movement disorders have [iss.it]

The deficit varies from very specific learning limitations to the overall impairment of social skills and intelligence. [iss.it]

Published 16/12/2019 - Edited 07/01/2022 Neurodevelopmental disorders occur in the early stages of development and are characterized by impairments in personal, social, academic [iss.it]

Congenital Disorder of Glycosylation Type 1X

At least 13 patients have been identified harboring mutations in this gene and all suffer from severe nonsyndromic intellectual impairment. [themedicalbiochemistrypage.org]

No patients complained of visual loss in diurnal or nocturnal vision, but intellectual deficiency may impair the ability to judge this loss for some. [ojrd.biomedcentral.com]

impairment. [themedicalbiochemistrypage.org]

Juvenile GM2-Gangliosidosis

impairment (80.9%). [ncbi.nlm.nih.gov]

[…] hearing loss intellectual disability Treatment for GM2 gangliosidosis There are currently no approved therapies to reverse the effects of GM2 gangliosidosis. [childrenshospital.org]

The most common symptom at onset was gait disturbances (58.2%), followed by speech problems (37.3%), incoordination (36.5%), intellectual impairment (29.1%), and behavior [ncbi.nlm.nih.gov]

Schindler Disease Type 3

Individuals with Schindler disease type II have also mild intellectual impairment, but do not show the serious neurological complications associated with Schindler disease [rarediseases.org]

Symptoms can range from more serious intellectual impairment, neurological dysfunction and seizures to milder neurological and psychiatric issues such as speech and language [rarediseases.org]

Trichothiodystrophy Type C

[…] stature BIDS: brittle hair–intellectual impairment–decreased fertility–short stature. [dermnetnz.org]

Other Names for This Condition Amish brittle hair syndrome BIDS syndrome Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS TTD References [medlineplus.gov]

The acronyms PIBIDS, IBIDS, and BIDS stand for various combinations of (in order) Photosensitivity, Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, [ajnr.org]

X-Linked Mental Retardation Type 88

Moderate to severe mental retardation was found in 7 males and milder intellectual impairment in 2 females, without any specific clinical, radiologic, or biologic features [latunisiemedicale.com]

Perspectives of intellectual disability in Latin American countries: epidemiology, policy, and services for children and adults. [scielo.org.pe]

Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet. 2010;11:161-87. [ Links ] 32. Klein E, Gallardo B, Chávez Ml, Abarca-Barriga H. [scielo.org.pe]

PIBIDS Syndrome

impairment. [en.wikipedia.org]

Impairment-Decreased Fertility-Short Stature Syndrome — Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome — Amish Brittle Hair Syndrome — Hair-Brain [mesh.kib.ki.se]

This clinical presentation is the first PIBIDS (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) case reported in [ncbi.nlm.nih.gov]

Seckel Syndrome Type 4

Seckel syndrome type 4 A rare autosomal recessive disorder (OMIM:613676) characterised by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed-like appearance, and mental retardation. Molecular pathology Defects of CENPJ, which[…] [medical-dictionary.thefreedictionary.com]

Joubert Syndrome Type 5

Clinically, it is characterized by intellectual impairment, hypotonia, ataxia, abnormal eye movements, and abnormal breathing patterns. [cureus.com]

impairment[90][91][92] Gross motor milestones delays [93] Hypotonia Natural History, Complications, and Prognosis Natural History The symptoms of joubert syndrome usually [wikidoc.org]

Clinical features included severe intellectual disability with absent speech and severe motor impairment, MTS on imaging, juvenile retinitis pigmentosa in the familial case [nature.com]

Macrocephaly Type Fryns

Developmental delay ranging from relatively mild impairment to severe intellectual disability has been reported in individuals with clinically diagnosed Fryns syndrome. [ncbi.nlm.nih.gov]

Due to impaired survival, the developmental course is not known for those with Fryns syndrome caused by PIGN pathogenic variants. [ncbi.nlm.nih.gov]

Pontocerebellar Hypoplasia Type 2A

All forms involve abnormal development of the brain, leading to slow development, movement problems, and intellectual impairment.[2] Facial features (dysmorphism) of patients [en.wikipedia.org]

X-Linked Non-Syndromic Mental Retardation

The one surviving boy was had severely impaired intellectual development. [en.wikipedia.org]

Perspectives of intellectual disability in Latin American countries: epidemiology, policy, and services for children and adults. [scielo.org.pe]

There was phenotypic variability between the families, but all male patients had impaired intellectual development. [en.wikipedia.org]