Motor delay, and Epileptic encephalopathy

Diseases related with Motor delay and Epileptic encephalopathy

In the following list you will find some of the most common rare diseases related to Motor delay and Epileptic encephalopathy that can help you solving undiagnosed cases.


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26

High match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM


DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17


Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

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Other less relevant matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

High match MENTAL RETARDATION, X-LINKED 49; MRX49


Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15|mrx15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5


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

High match MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ


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

High match DRAVET SYNDROME


Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

High match 3-METHYLGLUTACONIC ACIDURIA TYPE 9


MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

High match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Top 5 symptoms//phenotypes associated to Motor delay and Epileptic encephalopathy

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

Patients with Motor delay and Epileptic encephalopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Microcephaly EEG abnormality Spasticity Cerebral atrophy Focal impaired awareness seizure Cognitive impairment Behavioral abnormality Intellectual disability, severe Focal-onset seizure Generalized-onset seizure Generalized myoclonic seizures Myoclonus Dystonia Delayed speech and language development Generalized tonic-clonic seizures Short stature Hypsarrhythmia

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Developmental regression Abnormal facial shape Atonic seizures Delayed ability to walk Absence seizures Scoliosis Strabismus Generalized tonic-clonic seizures with focal onset Progressive microcephaly Chorea Cerebral visual impairment Hypoplasia of the corpus callosum Hyperactivity Gait ataxia Muscular hypotonia Febrile seizures Rigidity Tremor Fever Postnatal microcephaly Muscle weakness Abnormal cerebellum morphology Failure to thrive Obtundation status Psychomotor retardation Focal clonic seizures Hemiclonic seizures Multifocal seizures Cutaneous photosensitivity Status epilepticus Abnormality of extrapyramidal motor function Migraine Neurodevelopmental delay 3-Methylglutaconic aciduria Optic atrophy Wide nasal bridge Cerebellar vermis atrophy Incoordination Diplopia Narrow forehead Progressive cerebellar ataxia Tapered finger Small hand Dysmetria Toe syndactyly Clinodactyly Syndactyly Dysarthria Hypertonia Visual impairment High palate Low-set ears Ptosis Stroke Abnormality of mitochondrial metabolism Clonus Aciduria Increased serum lactate Brain atrophy Abnormality of the cerebral white matter Severe global developmental delay Autistic behavior Abnormal pyramidal sign Dyskinesia Midface retrusion Long philtrum Feeding difficulties Hypertelorism Generalized tonic seizures Athetosis Involuntary movements Delayed myelination Myoclonic absences Abnormality of movement Eyelid myoclonus Cortical myoclonus Myokymia Hypomimic face Arnold-Chiari type I malformation Bradykinesia Multifocal epileptiform discharges Agitation Thin upper lip vermilion Inability to walk Mental deterioration Neoplasm Cortical gyral simplification Polyneuropathy Hyporeflexia Immunodeficiency Cerebellar atrophy Ventriculomegaly Skeletal muscle atrophy Peripheral neuropathy Atypical absence seizures Cerebral palsy Impulsivity Language impairment Torticollis Autism Poor speech Coarse facial features Intellectual disability, mild Overlapping toe Dilated fourth ventricle



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