Cognitive impairment, and Focal seizures, afebril

Diseases related with Cognitive impairment and Focal seizures, afebril

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


Top matches:

High match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Medium match SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2


Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Low match TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME


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

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Other less relevant matches:

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match PHOSPHOHYDROXYLYSINURIA; PHLU


Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis


SOURCES: OMIM MENDELIAN

More info about PHOSPHOHYDROXYLYSINURIA; PHLU

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3


Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Low match INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

Low match ABETA AMYLOIDOSIS, ITALIAN TYPE


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.

ABETA AMYLOIDOSIS, ITALIAN TYPE Is also known as hchwa, italian type|abetae22k amyloidosis|hereditary cerebral hemorrhage with amyloidosis, italian type

Related symptoms:

  • Seizures
  • Dementia
  • Mental deterioration
  • Stroke
  • Coma


SOURCES: ORPHANET MENDELIAN

More info about ABETA AMYLOIDOSIS, ITALIAN TYPE

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5


Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

Top 5 symptoms//phenotypes associated to Cognitive impairment and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Uncommon - Between 30% and 50% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Migraine Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Focal seizures, afebril. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cyanosis

Rare Symptoms - Less than 30% cases


Myoclonus Apnea Intellectual disability Mental deterioration Developmental regression Global developmental delay Focal impaired awareness seizure Generalized tonic-clonic seizures Tremor Choreoathetosis Normal interictal EEG Dyskinesia Febrile seizures Generalized-onset seizure Abnormality of movement Cerebellar atrophy Abnormal facial shape Abnormality of the nervous system Progressive neurologic deterioration Fever High myoinositol in brain by MRS Muscle fibrillation Atonic seizures Growth delay Paroxysmal dyskinesia Generalized tonic-clonic seizures with focal onset Coma Status epilepticus Psychosis Aggressive behavior Depressivity Behavioral abnormality Cerebral hemorrhage Stroke Anxiety Dementia Paroxysmal choreoathetosis Paroxysmal dystonia Autonomic bladder dysfunction Writer's cramp Stereotypy Involuntary movements Impaired distal proprioception CNS hypomyelination Abnormality of ocular smooth pursuit Hyperreflexia Babinski sign Intellectual disability, mild Hypoplasia of the corpus callosum Dysphagia Optic atrophy Myopia Peripheral neuropathy Cerebral cortical atrophy Spasticity Nystagmus Short stature Loss of consciousness Pallor Generalized hypotonia Hypertonia Cerebellar hypoplasia Deeply set eye Vertical supranuclear gaze palsy Oligodontia Positive Romberg sign Abnormality of the basal ganglia Upper motor neuron dysfunction Spastic dysarthria Impaired vibration sensation in the lower limbs Postural tremor Drooling Delayed puberty Hypogonadotrophic hypogonadism Leukodystrophy Clumsiness Intention tremor Hypodontia Delayed eruption of teeth Dysmetria Personality disorder



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