Intellectual disability, severe, and Dyskinesia

Diseases related with Intellectual disability, severe and Dyskinesia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

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

Other less relevant matches:

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

High match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

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 DOMINANT; NDHMSD

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Chorea Status epilepticus Hypsarrhythmia Epileptic encephalopathy Dystonia Cerebral atrophy Progressive microcephaly EEG abnormality Developmental regression Intellectual disability, moderate Cognitive impairment Hypoplasia of the corpus callosum Generalized tonic-clonic seizures Gait ataxia Cerebellar atrophy Dysarthria Myoclonus Strabismus Hypertonia Hyperreflexia Delayed speech and language development Focal impaired awareness seizure Tremor Scoliosis Pes planus Generalized myoclonic seizures Autism

Rare Symptoms - Less than 30% cases

Specific learning disability Failure to thrive Cerebral visual impairment Autistic behavior Muscular hypotonia of the trunk Abnormality of the eye Abnormality of movement Muscular hypotonia Poor speech Muscle stiffness Apraxia Tetraparesis Febrile seizures Constipation Hyperactivity Kyphosis Bruxism Infantile spasms Global brain atrophy Spastic tetraparesis Ventriculomegaly Choreoathetosis High palate Epicanthus Behavioral abnormality Rigidity Hyperkinesis Deeply set eye Postnatal microcephaly Involuntary movements Atonic seizures Abnormal facial shape Epileptic spasms Difficulty walking Spastic tetraplegia Akinesia Aggressive behavior Intellectual disability, profound Peripheral neuropathy Tetraplegia Nystagmus Visual impairment Cerebral cortical atrophy Paroxysmal dyskinesia Absent speech Memory impairment Limb ataxia Hyperhidrosis Abnormal aldolase level Muscle weakness Sandal gap Cataract Ptosis Postural instability Brachydactyly Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Skeletal muscle atrophy Optic atrophy Abnormality of the skeletal system Flexion contracture Oculogyric crisis Hearing impairment Joint hypermobility Resting tremor Pain Feeding difficulties Blindness Schizophrenia Bradykinesia Abnormal pyramidal sign Abnormality of eye movement Thick eyebrow Short stature Inability to walk Parkinsonism Generalized-onset seizure Hypotelorism Self-injurious behavior Disproportionate tall stature Profound global developmental delay Recurrent infections Inappropriate crying Myopathy Hypogonadism Areflexia External genital hypoplasia Hip dysplasia Mild global developmental delay Hypertrichosis Progressive muscle weakness Short thumb Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles Hypergonadotropic hypogonadism Avascular necrosis of the capital femoral epiphysis Myopathic facies Congenital muscular dystrophy Coxa valga Cubitus valgus Type I diabetes mellitus Short metatarsal Dysphonia Abnormality of the metacarpal bones Infantile muscular hypotonia Decreased antibody level in blood Short metacarpal Hyporeflexia Abnormal levels of creatine kinase in blood Elevated serum creatine phosphokinase Cerebellar hypoplasia Severe short stature Kyphoscoliosis Pectus carinatum Metatarsus valgus Neurological speech impairment Hip dislocation Abnormality of the cerebellar vermis Progressive cerebellar ataxia Muscle flaccidity Muscular dystrophy Muscle fiber necrosis Congenital cataract Synophrys Smooth philtrum Short palm Microcornea Autophagic vacuoles Sensorimotor neuropathy Dysphagia Tongue thrusting Choanal atresia Orofacial dyskinesia Dysgraphia Dysmetric saccades Abnormality of ocular smooth pursuit Red-green dyschromatopsia Cryptorchidism Atrial septal defect Polymicrogyria Generalized tonic-clonic seizures with focal onset Impaired smooth pursuit Fatigue Headache Abnormality of metabolism/homeostasis Babinski sign Mental deterioration Apnea Paralysis Lethargy Confusion Head tremor Hand tremor Sleep disturbance Impaired horizontal smooth pursuit Fever Severe global developmental delay Spastic paraplegia Neurodegeneration CNS hypomyelination Generalized tonic seizures Cerebral hypomyelination Infantile encephalopathy EEG with burst suppression Gaze-evoked nystagmus Gait disturbance Intellectual disability, mild Depressivity Pes cavus Sensory neuropathy Truncal ataxia Postural tremor Impaired vibratory sensation Sensory axonal neuropathy Falls Focal-onset seizure Inappropriate laughter Postnatal growth retardation Spastic ataxia Abnormality of skin morphology Growth delay Motor delay Talipes equinovarus Gastroesophageal reflux Neonatal hypotonia Irritability Genu valgum Muscle fibrillation Delayed myelination Pachygyria Aspiration Drooling Athetosis Cortical gyral simplification Poor eye contact Breathing dysregulation Impaired social interactions Developmental stagnation Lissencephaly Cyanosis Atypical absence seizures Hemiparesis Absence seizures Sleep apnea Incoordination Slurred speech Language impairment Drowsiness Central apnea Paroxysmal dystonia Abnormal erythrocyte morphology Brain atrophy Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal involuntary eye movements Paroxysmal lethargy Low-set ears Micropenis Dyspnea Abnormality of the nervous system Lewy bodies


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