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

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]

Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Convex nasal ridge Beaked nose [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

Baseline mental and intellectual impairment should be assessed to rule out further deterioration after anaesthesia or intracranial hypertension. [journals.lww.com]

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

impairment ataxia seizures short stature and/or HGH deficient Emma exhibits ALL of these except for 3, 10, 13, and 15. [planetemmaclarissa.blogspot.com]

Kanzaki Disease

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

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

Some patients have been reported to have, in addition to angiokeratoma, mild intellectual impairment, but no neurologic signs. [rarediseases.info.nih.gov]

Schindler Disease

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

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

[…] patients with angiokeratoma corporis diffusum and minimal involvement of the nervous system and type 3 is an intermediate clinical form with manifestations ranging from intellectual [orpha.net]

Periventricular Leukomalacia

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

Abstract eriventricular leukomalacia (PVL) occurring in premature infants, represents a major precursor for neurological and intellectual impairment, and cerebral palsy in [oro.open.ac.uk]

OBJECTIVE: Periventricular leukomalacia (PVL) is a neonatal brain white matter injury associated with development of cerebral palsy, intellectual impairment, and visual disturbances [ncbi.nlm.nih.gov]

Optic Atrophy-Intellectual Disability Syndrome

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

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

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]

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]

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]

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]

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

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

Epidermal Nevus

Epilepsy and intellectual impairment may be associated. [patient.info]

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

Intellectual impairment. Structural or vascular brain abnormalities. Spinal lesions. [patient.info]

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]

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]

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

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]

Lennox-Gastaut Syndrome

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

LGS is usually characterized by three major symptoms including multiple types of seizures, intellectual impairment or deterioration, and irregular EEG discharges. [rscdiagnosticservices.com]

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]

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]

Autosomal Dominant Spastic Paraplegia Type 4

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

[…] weakness Muscle weakness in lower limbs [ more ] 0007340 Lower limb spasticity 0002061 Urinary urgency Overactive bladder 0000012 5%-29% of people have these symptoms Cognitive impairment [rarediseases.info.nih.gov]

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]

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]

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]

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]

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]

Baker-Gordon Syndrome

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

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]

intellectual development. [findzebra.com]

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]

PIBIDS Syndrome

Trichothiodystrophy ( TTD ) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. [ipfs.io]

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. [owlapps.net]

Acronyms Features of TTD can include photosensitivity, icthyosis, brittle hair and nails, intellectual impairment, decreased fertility and short stature. [dict.eudic.net]

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]

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]

Glutamyl Ribose-5-Phosphate Storage Disease

Intellectual Development GZP006 HGPPS2 Gbe1 Adult Polyglucosan Body Disease GB1002 Gcgr-Related Hyperglucagonemia GCG001 Gdap1-Related Hereditary Motor and Sensory Neuropathy [malacards.org]

Intellectual Development GLB025 GDDI Global Developmental Delay with Speech and Behavioral Abnormalities GLB029 GDSBA Global Developmental Delay, Absent or Hypoplastic Corpus [malacards.org]

Intellectual Development, Hypotonia, and Hepatopathy GRW040 GRIDHH Growth Retardation, Small and Puffy Hands and Feet, and Eczema GRW033 Growth Retardation-Mild Developmental [malacards.org]