Intellectual disability, severe, and EEG abnormality

Diseases related with Intellectual disability, severe and EEG abnormality

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and EEG abnormality that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63

Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).

FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 Is also known as focal cortical dysplasia of taylor|cortical dysplasia of taylor|cdt|fcdt|fcd2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Intellectual disability, severe
  • EEG abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2

Other less relevant matches:

Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2|pvnh2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Fever


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by Berryer et al., 2013).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and EEG abnormality

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and EEG abnormality. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Epileptic encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Developmental regression Ataxia Hypoplasia of the corpus callosum Generalized myoclonic seizures Cognitive impairment Microcephaly Hypsarrhythmia Epileptic spasms Spastic tetraplegia Status epilepticus Tetraplegia Autism Delayed speech and language development Febrile seizures Autistic behavior Focal-onset seizure Generalized tonic-clonic seizures

Rare Symptoms - Less than 30% cases

Progressive microcephaly Absence seizures Tetraparesis Language impairment Infantile spasms Intellectual disability, profound Hyperactivity Fever Cerebral atrophy Hyperreflexia CNS hypomyelination Atonic seizures Intellectual disability, moderate Spasticity Muscular hypotonia of the trunk Myoclonus Focal impaired awareness seizure Dystonia Hemiparesis Heterotopia Motor delay High palate Cerebellar atrophy Torticollis Postnatal microcephaly Rigidity Dysphasia Muscular hypotonia Low-set ears Brain atrophy Strabismus Atrophy/Degeneration affecting the brainstem Intermittent hyperventilation Hemiclonic seizures Coloboma Impulsivity Continuous spike and waves during slow sleep Polymicrogyria Aphasia Bruxism Apraxia Generalized-onset seizure Urinary incontinence Progressive cerebellar ataxia Speech apraxia Perisylvian polymicrogyria Atypical absence seizures Neurological speech impairment Agnosia Attention deficit hyperactivity disorder Oromotor apraxia Behavioral abnormality Dysarthria EEG with centrotemporal focal spike waves Abnormal facial shape Dysdiadochokinesis Neurodegeneration Hyperventilation Focal aware seizure Spastic tetraparesis Dysmetria Abnormality of the nervous system Intellectual disability, mild Nystagmus Focal cortical dysplasia type II Focal white matter lesions Abnormal myelination Hemimegalencephaly Generalized tonic-clonic seizures with focal onset Astrocytosis Cortical dysplasia Memory impairment Abnormality of the cerebral white matter Inability to walk Myokymia Failure to thrive Cutaneous photosensitivity Generalized tonic seizures Psychosis Aggressive behavior Scoliosis EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Cerebral hypomyelination Dyskinesia Recurrent infections Spastic paraplegia Severe global developmental delay Cerebral cortical atrophy Absent speech Tremor Periventricular gray matter heterotopia Poor eye contact Small anterior fontanelle


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