Intellectual disability, severe, and Focal seizures, afebril

Diseases related with Intellectual disability, severe and Focal seizures, afebril

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

Top matches:

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Related symptoms:

  • Intellectual disability
  • Seizures


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 96; MRX96

Other less relevant matches:

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

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
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Developmental regression Common - Between 50% and 80% cases
EEG abnormality Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Focal-onset seizure Autistic behavior Microcephaly Hyperactivity Autism Encephalopathy Spasticity Epileptic encephalopathy Behavioral abnormality Cognitive impairment Short stature Motor delay Delayed speech and language development Status epilepticus Hemiparesis Focal impaired awareness seizure Cerebellar hypoplasia Cortical dysplasia Dystonia Hypoplasia of the corpus callosum Aggressive behavior Polymicrogyria Language impairment

Rare Symptoms - Less than 30% cases

Cerebral visual impairment Strabismus Generalized tonic-clonic seizures Absent speech Intellectual disability, moderate Coarse facial features Neurological speech impairment Generalized-onset seizure Abnormal facial shape Bruxism Generalized myoclonic seizures Intellectual disability, mild Febrile seizures Hyperventilation Generalized tonic-clonic seizures with focal onset Atonic seizures Absence seizures Hyperreflexia Optic atrophy Heterotopia Fever Intermittent hyperventilation Attention deficit hyperactivity disorder Scoliosis Urinary incontinence Apraxia Progressive cerebellar ataxia Atypical absence seizures Dysarthria Hemiclonic seizures Impulsivity Psychosis Cutaneous photosensitivity Torticollis Postnatal microcephaly Rigidity Myoclonus Muscular hypotonia Dysphasia Dysdiadochokinesis Continuous spike and waves during slow sleep Aphasia Abnormality of the nervous system Visual impairment Atrial septal defect Cerebral atrophy Pes planus Dyskinesia Chorea Hypsarrhythmia Choanal atresia Ptosis Hyporeflexia Apnea Agyria Wide mouth Poor speech Thick vermilion border Hypertrichosis Stereotypy Reduced tendon reflexes Delayed gross motor development Loss of consciousness Impaired social interactions Unilateral ptosis Flared nostrils Cryptorchidism Esodeviation Epileptic spasms Agenesis of corpus callosum Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia EEG with centrotemporal focal spike waves Focal aware seizure Feeding difficulties Ventriculomegaly Blindness Hypertonia Dilatation Muscular hypotonia of the trunk Congenital microcephaly Abnormal pyramidal sign Tetraplegia Spastic tetraplegia Intellectual disability, profound Cerebellar vermis hypoplasia Pachygyria Lissencephaly Hypoplasia of the brainstem Abnormality of neuronal migration Cerebellar dysplasia Hemianopia Focal cortical dysplasia type II Peripheral neuropathy Focal white matter lesions Abnormality of the skeletal system Impaired distal proprioception High myoinositol in brain by MRS Nystagmus Hearing impairment Low-set ears Depressed nasal bridge Hepatomegaly Macrocephaly Frontal bossing Anteverted nares Abnormality of ocular smooth pursuit Short neck Edema Kyphosis Inguinal hernia Prominent forehead Proptosis Mandibular prognathia Dyspnea Kyphoscoliosis Umbilical hernia Autonomic bladder dysfunction Vertical supranuclear gaze palsy Postnatal growth retardation Intention tremor Myopia Dysphagia Babinski sign Cerebral cortical atrophy Deeply set eye Delayed puberty Dysmetria Delayed eruption of teeth Hypodontia Clumsiness Positive Romberg sign Leukodystrophy Hypogonadotrophic hypogonadism Drooling Oligodontia CNS hypomyelination Postural tremor Impaired vibration sensation in the lower limbs Spastic dysarthria Upper motor neuron dysfunction Abnormality of the basal ganglia Hepatosplenomegaly Joint stiffness Hemimegalencephaly Urinary glycosaminoglycan excretion Thoracolumbar kyphosis Inspiratory stridor Hypochromic anemia Hyperplasia of the maxilla Abnormality of the optic disc J-shaped sella turcica Obstructive lung disease Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Anisopoikilocytosis Communicating hydrocephalus Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Intervertebral space narrowing Dysplastic aortic valve Localized skin lesion Abnormality of nasopharyngeal adenoids Abnormality of the cerebral white matter Memory impairment Astrocytosis Increased mean corpuscular volume Beaking of vertebral bodies Tachycardia Thickened skin Ascites Macroglossia Limitation of joint mobility Cyanosis Abnormality of the cardiovascular system Mitral valve prolapse Pulmonary arterial hypertension Recurrent otitis media Mitral regurgitation Abnormality of the face Progressive hearing impairment Edema of the lower limbs Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Heart murmur Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Progressive language deterioration


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