Intellectual disability, severe, and Encephalopathy

Diseases related with Intellectual disability, severe and Encephalopathy

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

Top matches:

Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (OMIM ) and hereditary hyperekplexia (OMIM ), respectively.

HYPEREKPLEXIA-EPILEPSY SYNDROME Is also known as hyperekplexia and epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Intellectual disability, severe
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPEREKPLEXIA-EPILEPSY SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Other less relevant matches:

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

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

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

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Hypoplasia of the corpus callosum EEG abnormality Developmental regression Febrile seizures Progressive microcephaly Tetraplegia Absent speech Cerebral atrophy Spasticity Delayed speech and language development Hyperreflexia Hyperactivity Hypsarrhythmia Generalized myoclonic seizures Spastic tetraplegia Autism Cognitive impairment Polymicrogyria Autistic behavior Status epilepticus Dystonia Myoclonus

Rare Symptoms - Less than 30% cases

Strabismus Motor delay Intellectual disability, progressive Focal-onset seizure Postnatal microcephaly Atonic seizures Cerebellar atrophy Language impairment Epileptic spasms CNS hypomyelination Absence seizures Rigidity Intellectual disability, profound Poor eye contact Generalized tonic-clonic seizures Behavioral abnormality Cerebral cortical atrophy Fever Muscular hypotonia of the trunk Intellectual disability, moderate Apraxia Brain atrophy Hemiparesis Dysdiadochokinesis Coloboma Aphasia Dysphasia Low-set ears Speech apraxia Perisylvian polymicrogyria Agnosia Infantile spasms High palate EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Oromotor apraxia Vomiting Atrophy/Degeneration affecting the brainstem Abnormal muscle tone Polyneuropathy Gait ataxia Hyporeflexia Immunodeficiency Ventriculomegaly Skeletal muscle atrophy Peripheral neuropathy Neoplasm Short stature Congenital encephalopathy Central hypoventilation Small anterior fontanelle Hypoventilation Feeding difficulties in infancy Apnea Gastroesophageal reflux Respiratory failure Constipation Urinary incontinence Respiratory insufficiency Feeding difficulties Failure to thrive Growth delay Generalized-onset seizure Cyanosis Progressive cerebellar ataxia Severe global developmental delay EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Cerebral hypomyelination Generalized tonic seizures Neurodegeneration Dyskinesia Spastic paraplegia Tremor Aggressive behavior Abnormal myelination Myokymia Spastic tetraparesis Tetraparesis Dysmetria Abnormality of the nervous system Intellectual disability, mild Nystagmus Exaggerated startle response Scoliosis Psychosis Neurological speech impairment Frontal bossing Attention deficit hyperactivity disorder Dysarthria Abnormal facial shape Neurodevelopmental delay Self-injurious behavior Severe muscular hypotonia Involuntary movements Inability to walk Midface retrusion Atypical absence seizures Cutaneous photosensitivity Impulsivity Focal impaired awareness seizure Torticollis Muscular hypotonia Hypertonia Intermittent hyperventilation Hemiclonic seizures Bruxism Hyperventilation Cortical gyral simplification


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