CADEDS
MCID: CRB169
MIFTS: 46

Cerebellar Atrophy, Developmental Delay, and Seizures (CADEDS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebellar Atrophy, Developmental Delay, and Seizures

MalaCards integrated aliases for Cerebellar Atrophy, Developmental Delay, and Seizures:

Name: Cerebellar Atrophy, Developmental Delay, and Seizures 58 76 6
Neurodevelopmental Disorders 45 74
Cadeds 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
variable response to anti-epileptic drugs
two sisters born of consanguineous saudi parents have been reported (last curated august 2017)


HPO:

33
cerebellar atrophy, developmental delay, and seizures:
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 58 617643
SNOMED-CT via HPO 70 224958001 274521009 95646004
UMLS 74 C1535926

Summaries for Cerebellar Atrophy, Developmental Delay, and Seizures

UniProtKB/Swiss-Prot : 76 Cerebellar atrophy, developmental delay, and seizures: An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy.

MalaCards based summary : Cerebellar Atrophy, Developmental Delay, and Seizures, also known as neurodevelopmental disorders, is related to alacrima, achalasia, and mental retardation syndrome and neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. An important gene associated with Cerebellar Atrophy, Developmental Delay, and Seizures is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). The drugs Oxytocin and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are eeg abnormality and global developmental delay

Description from OMIM: 617643

Related Diseases for Cerebellar Atrophy, Developmental Delay, and Seizures

Diseases related to Cerebellar Atrophy, Developmental Delay, and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 29.4 BRPF1 EBF3
2 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 12.5
3 neurodevelopmental disorder with severe motor impairment and absent language 12.4
4 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 12.4
5 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 12.4
6 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 12.4
7 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.4
8 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.4
9 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.4
10 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 12.4
11 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 12.4
12 neurodevelopmental disorder with involuntary movements 12.4
13 neurodevelopmental disorder with midbrain and hindbrain malformations 12.4
14 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 12.4
15 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 12.4
16 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 12.3
17 neurodevelopmental disorder with or without seizures and gait abnormalities 12.3
18 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 12.3
19 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.3
20 neurodevelopmental disorder with microcephaly, ataxia, and seizures 12.3
21 neurodevelopmental disorder with poor language and loss of hand skills 12.3
22 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.3
23 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 12.3
24 neurodevelopmental disorder with spasticity and poor growth 12.3
25 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 12.3
26 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 12.3
27 grin2b-related neurodevelopmental disorder 12.3
28 neurodevelopmental disorder, x-linked, with craniofacial abnormalities 12.3
29 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.3
30 neurodevelopmental disorder and language delay with or without structural brain abnormalities 12.3
31 neurodevelopmental disorder with central and peripheral motor dysfunction 12.3
32 alcohol-related neurodevelopmental disorder 12.3
33 neurodevelopmental disorder with spastic diplegia and visual defects 12.2
34 gatad2b-associated neurodevelopmental disorder 12.2
35 chd2-related neurodevelopmental disorders 12.2
36 pura-related neurodevelopmental disorders 12.2
37 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.1
38 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 12.1
39 ppp2r5d-related neurodevelopmental disorder 12.1
40 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 12.1
41 fetal alcohol syndrome 11.8
42 mbd5 haploinsufficiency 11.8
43 baker-gordon syndrome 11.7
44 pura syndrome 11.6
45 fetal alcohol spectrum disorder 11.5
46 chd2 myoclonic encephalopathy 11.5
47 smith-kingsmore syndrome 11.4
48 rett syndrome 11.4
49 deaf1-associated disorders 11.4
50 non-specific syndromic intellectual disability 11.4

Graphical network of the top 20 diseases related to Cerebellar Atrophy, Developmental Delay, and Seizures:



Diseases related to Cerebellar Atrophy, Developmental Delay, and Seizures

Symptoms & Phenotypes for Cerebellar Atrophy, Developmental Delay, and Seizures

Human phenotypes related to Cerebellar Atrophy, Developmental Delay, and Seizures:

33
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 33 HP:0002353
2 global developmental delay 33 HP:0001263
3 cerebellar atrophy 33 HP:0001272
4 poor speech 33 HP:0002465
5 generalized tonic-clonic seizures with focal onset 33 HP:0007334

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cerebellar atrophy
poor speech
abnormal eeg
delayed psychomotor development, severe
seizures, myoclonic
more
Head And Neck Head:
decline in head circumference with age

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617643

Drugs & Therapeutics for Cerebellar Atrophy, Developmental Delay, and Seizures

Drugs for Cerebellar Atrophy, Developmental Delay, and Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 562)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 439302 53477758
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
3
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 113-45-1 4158
4
Risperidone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 106266-06-2 5073
5
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 113775-47-6 68602 5311068
6
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
7
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 51-84-3 187
8
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 129722-12-9 60795
9
Norepinephrine Approved Phase 4,Phase 2,Not Applicable 51-41-2 439260
10
Dextroamphetamine Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-64-9 5826
11
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 99-66-1 3121
12
Sertraline Approved Phase 4,Phase 3,Phase 2,Not Applicable 79617-96-2 68617
13
Topiramate Approved Phase 4,Phase 3 97240-79-4 5284627
14
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
15
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
16
Ziprasidone Approved Phase 4,Phase 2 146939-27-7 60854
17
Lithium carbonate Approved Phase 4,Phase 3 554-13-2
18
Fluoxetine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 54910-89-3 3386
19
Clonidine Approved Phase 4,Phase 3,Phase 2 4205-90-7 2803
20
Ferrous succinate Approved Phase 4 10030-90-7
21
Iron Approved, Experimental Phase 4,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
22
Rufinamide Approved Phase 4 106308-44-5 129228
23
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
24
Gabapentin Approved, Investigational Phase 4,Early Phase 1 60142-96-3 3446
25
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
26
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
27
Ethosuximide Approved Phase 4 77-67-8 3291
28
Oxcarbazepine Approved Phase 4,Not Applicable 28721-07-5 34312
29
Vigabatrin Approved Phase 4,Phase 1,Phase 2 68506-86-5, 60643-86-9 5665
30
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
31
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
32
Nitrazepam Approved Phase 4,Not Applicable 146-22-5 4506
33
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
34
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
35
Felbamate Approved Phase 4 25451-15-4 3331
36
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
37
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
38
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
39
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
40
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
41
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
42
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
43
Levodopa Approved Phase 4,Phase 1 59-92-7 6047
44
Methamphetamine Approved, Illicit Phase 4,Not Applicable 537-46-2 10836
45
Guanfacine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 29110-47-2 3519
46
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-17-5 702
47
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 16590-41-3 5360515
48
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 19982-08-2 4054
49
Tocopherol Approved, Investigational Phase 4,Phase 3,Phase 2 1406-66-2 14986
50
Amoxicillin Approved, Vet_approved Phase 4,Not Applicable 26787-78-0 33613

Interventional clinical trials:

(show top 50) (show all 2380)
# Name Status NCT ID Phase Drugs
1 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
2 Pharmacokinetic Study of Methylphenidate HCl Extended-Release Capsules in Children 4 to Under 6 Years of Age With ADHD Unknown status NCT02470234 Phase 4 Methylphenidate HCl ER Capsules
3 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
4 Methylphenidate vs. Risperidone for the Treatment of Children and Adolescents With ADHD and Disruptive Disorders Unknown status NCT02063945 Phase 4 Methylphenidate;Risperidone
5 A Comparison of Two Doses of Intranasal Dexmedetomidine for Premedication in Children Unknown status NCT02459509 Phase 4 Dexmedetomidine
6 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
7 Clinical Trial to Evaluate the Efficacy and the Tolerance of an Omega 3 Fatty Acids Supplementation in ADHD Children Unknown status NCT00770627 Phase 4
8 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
9 A Flexible-Dose Titration Study of Aptensio XR in Children Ages 4 to Under 6 Years Diagnosed With ADHD Unknown status NCT02683265 Phase 4 Aptensio XR;Placebo
10 A 12-Month Open Label Safety Study of Aptensio XR® in Children Ages 4-5 Years Diagnosed With ADHD Unknown status NCT02677519 Phase 4 Aptensio XR
11 Identify Peripheral Biomarkers of Symptomatology, Neurocognitive Functions, and Medication Response in ADHD Unknown status NCT02074228 Phase 4 Methylphenidate (Concerta)
12 Attention-deficit/Hyperactivity Disorder Translational Center for Identifying Biomarkers Unknown status NCT02623114 Phase 4 methylphenidate;atomoxetine
13 Associated Genes With Atomoxetine Response in Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT01339286 Phase 4 atomoxetine
14 Effects of a Probiotic Supplement on Symptoms of Attention Deficit Hyperactivity Disorder and Anxiety in Children Unknown status NCT02545634 Phase 4
15 Methylphenidate Treatment Response Study of Genetic Polymorphism in Attention Deficit Hyperactivity Disorder(ADHD) Unknown status NCT00862108 Phase 4 Methylphenidate
16 Comparing Treatment With Melatonin to Treatment With Stimulants (Methylphenidate) in Children With Attention Deficit Hyperactivity Disorder and Sleep Difficulties Unknown status NCT01393574 Phase 4 Melatonin;Methylphenidate
17 Effectiveness of Combined Medication Treatment for Aggression in Children With Attention Deficit With Hyperactivity Disorder (The SPICY Study) Unknown status NCT00794625 Phase 4 Valproate;Risperidone;Placebo;Stimulant medication
18 Impact of Attention Deficit/Hyperactivity Disorder and Substance Use Disorder on Motorcycle Traffic Accidents Unknown status NCT00536419 Phase 4 Methylphenidate
19 Juvenile Bipolar Disorder Outpatient Program Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
20 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
21 Iron Supplementation of Marginally Low Birth Weight Infants Unknown status NCT00558454 Phase 4 Iron
22 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
23 Effect of Atomoxetine on ADHD-Related Insomnia in Children and Adolescents Unknown status NCT00252278 Phase 4 atomoxetine
24 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dyslexia Unknown status NCT00111371 Phase 4 Levodopa
25 A Study of Combination Therapy in Children With ADHD Completed NCT01940978 Phase 4 Methylphenidate ER;Cyproheptadine
26 The Effects of Long-acting Methylphenidate on Academic Activity and Related Constructs in Children With ADHD Completed NCT02501798 Phase 4 Methylphenidate;Placebo
27 Effects of Expectation, Medication and Placebo on Objective and Self-rated Performance During the QbTest Completed NCT02473185 Phase 4 Methylphenidate
28 Effects of Atx and Oros-mph on Executive Functions Completed NCT02352051 Phase 4 Atomoxetine;methylphenidate
29 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
30 Efficacy and Safety Eval of Guanfacine Hydrochloride in Combination With Psychostimulants in Adults (18-65). Completed NCT02141113 Phase 4 Guanfacine Hydrocholride;Guanfacine Hydrocholride
31 Control of Cognition (Naltrexone, Methylphenidate, and ADHD Study (NMAS)) Completed NCT01993108 Phase 4 Methylphenidate;Naltrexone;Placebo
32 Sequencing Treatments for Mothers With ADHD and Their At - Risk Children Completed NCT01816074 Phase 4 Vyvanse (lisdexamphetamine)
33 Attention Deficit Disorder Medication Response Study Completed NCT01727414 Phase 4 OROS-Methylphenidate and placebo for inattentive type pts;OROS-Methylphenidate and placebo for combined type pts
34 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
35 Effects of LDX on Functioning of College Students With ADHD Completed NCT01342445 Phase 4 lisdexamfetamine dimesylate;Placebo
36 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
37 Comparing the Efficacy of Methylphenidate, Dextroamphetamine and Placebo in Children Diagnosed With ADHD Completed NCT01220440 Phase 4 Methylphenidate;Placebo;Dextroamphetamine
38 Inuniv and Working Memory Completed NCT01177306 Phase 4 extended release guanfacine
39 Evaluation of an Intervention for Improving Community-based Pediatric Attention-Deficit Hyperactivity Disorder (ADHD) Care Completed NCT01143701 Phase 4
40 Does Pharmacological Treatment of Attention Deficit Hyperactivity Disorder (ADHD) in Adults Enhance Parenting Performance? Completed NCT01127607 Phase 4 lisdexamfetamine
41 Safety and Efficacy of SPD489 on Executive Function Behaviors in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT01101022 Phase 4 SPD489
42 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
43 Vilazodone for Separation Anxiety Disorder Completed NCT01999920 Phase 4 Vilazodone;Placebo
44 Effect of Vyvanse on Driving in Young Adults With ADHD Completed NCT00801229 Phase 4 Vyvanse;Placebo
45 Basic and Clinical Research on Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00663442 Phase 4 OROS methylphenidate
46 Proton Magnetic Spectroscopy in Children and Adolescents With ADHD Before and After Treatment With OROS Methylphenidate Completed NCT00593112 Phase 4 OROS methylphenidate
47 Open-Label Pilot Study of Namenda in Adult Subjects With ADHD and ADHD NOS Completed NCT00586573 Phase 4 memantine hydrochloride
48 Atomoxetine Pilot Study in Preschool Children With ADHD Completed NCT00517647 Phase 4 ATMX
49 Analog Classroom Study Comparison of ADDERALL XR With STRATTERA in Children Aged 6-12 With ADHD Completed NCT00506727 Phase 4 Mixed amphetamine salts (ADDERALL XR);Atomoxetine hydrochloride
50 Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD Completed NCT00500071 Phase 4 Vyvanse (lisdexamfetamine dimesylate)

Search NIH Clinical Center for Cerebellar Atrophy, Developmental Delay, and Seizures

Cochrane evidence based reviews: neurodevelopmental disorders

Genetic Tests for Cerebellar Atrophy, Developmental Delay, and Seizures

Anatomical Context for Cerebellar Atrophy, Developmental Delay, and Seizures

MalaCards organs/tissues related to Cerebellar Atrophy, Developmental Delay, and Seizures:

42
Brain, Testes, Eye, Bone, Heart, Cortex, Skin

Publications for Cerebellar Atrophy, Developmental Delay, and Seizures

Articles related to Cerebellar Atrophy, Developmental Delay, and Seizures:

(show top 50) (show all 779)
# Title Authors Year
1
Attention-deficit/hyperactivity disorder and risk for psychiatric and neurodevelopmental disorders in siblings. ( 29607791 )
2019
2
Neurodevelopmental Disorders: Functional Role of Ambra1 in Autism and Schizophrenia. ( 30915711 )
2019
3
HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism. ( 30800042 )
2019
4
Association between feeding/mealtime behavior problems and internalizing/externalizing problems in autism spectrum disorder (ASD), other neurodevelopmental disorders (NDDs) and typically developing children. ( 30761818 )
2019
5
Dysregulated Translation in Neurodevelopmental Disorders: An Overview of Autism-Risk Genes Involved in Translation. ( 30430754 )
2019
6
Role of adherens junctions and apical-basal polarity of neural stem/progenitor cells in the pathogenesis of neurodevelopmental disorders: a novel perspective on congenital Zika syndrome. ( 30904442 )
2019
7
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. ( 30595372 )
2019
8
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. ( 30735662 )
2019
9
Taking Sleep Difficulties Seriously in Children With Neurodevelopmental Disorders and ASD. ( 30745434 )
2019
10
Re: Cryptorchidism and Increased Risk of Neurodevelopmental Disorders. ( 30864923 )
2019
11
Application of Human-Induced Pluripotent Stem Cells (hiPSCs) to Study Synaptopathy of Neurodevelopmental Disorders. ( 30304570 )
2019
12
Correction to: Physical health in children with neurodevelopmental disorders. ( 30341628 )
2019
13
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders. ( 30563709 )
2019
14
Generating truth from error: insights from neurodevelopmental disorders. ( 30596905 )
2019
15
Innovations and changes in the ICD-11 classification of mental, behavioural and neurodevelopmental disorders. ( 30600616 )
2019
16
The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa. ( 30605655 )
2019
17
Adverse drug event-related hospitalisation in persons with neurodevelopmental disorders: a state-wide retrospective cohort study. ( 30609156 )
2019
18
Neurodevelopmental disorders in children exposed in utero to synthetic progestins: analysis from the national cohort of the Hhorages Association. ( 30626235 )
2019
19
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders. ( 30628890 )
2019
20
The medial pulvinar: function, origin and association with neurodevelopmental disorders. ( 30657169 )
2019
21
Clinical effectiveness of repetitive transcranial magnetic stimulation treatment in children and adolescents with neurodevelopmental disorders: A systematic review. ( 30663323 )
2019
22
Mechanisms of Sleep and Circadian Ontogeny Through the Lens of Neurodevelopmental Disorders. ( 30668981 )
2019
23
Synaptic Formation, Neural Circuits and Neurodevelopmental Disorders Controlled by Signaling, Translation, and Epigenetic Regulation. ( 30672130 )
2019
24
Involving children with neurodevelopmental disorders in biomedical research. ( 30691928 )
2019
25
Self-directed speech and self-regulation in childhood neurodevelopmental disorders: Current findings and future directions. ( 30704545 )
2019
26
Investigating functional brain network integrity using a traditional and novel categorical scheme for neurodevelopmental disorders. ( 30708240 )
2019
27
Functional Evaluation of Eating Difficulties Scale to predict oral motor skills in infants with neurodevelopmental disorders: a longitudinal study. ( 30720211 )
2019
28
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. ( 30732576 )
2019
29
Clinical guidelines in neurodevelopmental disorders: following the line. ( 30734940 )
2019
30
Golden Exosomes Selectively Target Brain Pathologies in Neurodegenerative and Neurodevelopmental Disorders. ( 30761901 )
2019
31
Non-invasive Brain Stimulation for the Rehabilitation of Children and Adolescents With Neurodevelopmental Disorders: A Systematic Review. ( 30787895 )
2019
32
Selective Eating: A Common Fuss in Neurodevelopmental Disorders. ( 30792030 )
2019
33
Management of Self-Injurious Behaviors in Children with Neurodevelopmental Disorders-A Pharmacotherapy Overview. ( 30793794 )
2019
34
Cyber bullying among children with neurodevelopmental disorders: A systematic review. ( 30820957 )
2019
35
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. ( 30836150 )
2019
36
The fallacy of small sample size - Comment on: Geier D.A., Kern J.K., Homme K.G., Geier M.R., 2018. The risk of neurodevelopmental disorders following thimerosal-containing Hib vaccine in comparison to thimerosal-free Hib vaccine administered from 1995 to 1999 in the United States. Int. J. Hyg. Environ. Health. 221: 677-683. ( 30850065 )
2019
37
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review. ( 30853971 )
2019
38
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil. ( 30866944 )
2019
39
Microbiome programming of brain development: implications for neurodevelopmental disorders. ( 30868564 )
2019
40
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques. ( 30875831 )
2019
41
Mobile EEG in research on neurodevelopmental disorders: Opportunities and challenges. ( 30877927 )
2019
42
Key role of soluble epoxide hydrolase in the neurodevelopmental disorders of offspring after maternal immune activation. ( 30890645 )
2019
43
Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders. ( 30900179 )
2019
44
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders. ( 29729439 )
2019
45
Gap analysis of service needs for adults with neurodevelopmental disorders. ( 28847208 )
2019
46
Neurodevelopmental Disorders Affecting Sociability: Recent Research Advances and Future Directions in Autism Spectrum Disorder and Williams Syndrome. ( 30328520 )
2018
47
Bugs in the program: can pregnancy drugs and smoking disturb molecular reprogramming of the fetal germline, increasing heritable risk for autism and neurodevelopmental disorders? ( 29732167 )
2018
48
Autism and the University Experience: Narratives from Students with Neurodevelopmental Disorders. ( 29744704 )
2018
49
Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia. ( 30170228 )
2018
50
De novo variants in neurodevelopmental disorders with epilepsy. ( 29942082 )
2018

Variations for Cerebellar Atrophy, Developmental Delay, and Seizures

ClinVar genetic disease variations for Cerebellar Atrophy, Developmental Delay, and Seizures:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBR1 NM_006593.4(TBR1): c.1588_1594dup (p.Thr532Argfs) duplication Likely pathogenic rs869312704 GRCh37 Chromosome 2, 162280277: 162280283
2 TBR1 NM_006593.4(TBR1): c.1588_1594dup (p.Thr532Argfs) duplication Likely pathogenic rs869312704 GRCh38 Chromosome 2, 161423766: 161423772
3 BRPF1 NM_001003694.1(BRPF1): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs1057519511 GRCh37 Chromosome 3, 9776186: 9776187
4 BRPF1 NM_001003694.1(BRPF1): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs1057519511 GRCh38 Chromosome 3, 9734502: 9734503
5 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh37 Chromosome 10, 131676052: 131676052
6 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh38 Chromosome 10, 129877788: 129877788
7 AIMP2 NM_006303.3(AIMP2): c.105C> A (p.Tyr35Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs529613640 GRCh38 Chromosome 7, 6009468: 6009468
8 AIMP2 NM_006303.3(AIMP2): c.105C> A (p.Tyr35Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs529613640 GRCh37 Chromosome 7, 6049099: 6049099
9 KCNMA1 NM_001014797.2(KCNMA1): c.2038dup (p.Tyr680Leufs) duplication Pathogenic rs762705295 GRCh37 Chromosome 10, 78771791: 78771791
10 KCNMA1 NM_001014797.2(KCNMA1): c.2038dup (p.Tyr680Leufs) duplication Pathogenic rs762705295 GRCh38 Chromosome 10, 77012033: 77012033
11 subset of 43 genes:PAFAH1B1 GRCh37/hg19 17p13.3(chr17: 1-2538512)x4,5 copy number gain Uncertain significance GRCh37 Chromosome 17, 1: 2538512

Copy number variations for Cerebellar Atrophy, Developmental Delay, and Seizures from CNVD:

7 (show top 50) (show all 62)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 42289 10 31400000 34500000 Translocation Neurodevelopmental disorder
2 44658 10 61200000 64800000 Translocation ANK3 Neurodevelopmental disorder
3 45071 10 6700000 17300000 Translocation FAM107B Neurodevelopmental disorder
4 51157 11 123500000 127400000 Translocation KIRREL3 Neurodevelopmental disorder
5 53586 11 31000000 36400000 Translocation Neurodevelopmental disorder
6 54384 11 43400000 48800000 Translocation Neurodevelopmental disorder
7 64293 12 12600000 85100000 Inversion GRIN2B Neurodevelopmental disorder
8 65756 12 21200000 26300000 Translocation SOX5 Neurodevelopmental disorder
9 74663 13 110074168 110350829 Translocation PAK3 Neurodevelopmental disorder
10 79799 13 77800000 86500000 Translocation Neurodevelopmental disorder
11 83028 14 19100000 23600000 Translocation CHD8 Neurodevelopmental disorder
12 84106 10 30762871 30790767 Translocation EST Neurodevelopmental disorder
13 85228 14 41000000 43200000 Translocation Neurodevelopmental disorder
14 89766 15 19000000 33600000 Duplication Neurodevelopmental disorder
15 91411 X 152940457 153016382 Deletion MECP2 Neurodevelopmental disorder
16 97902 16 14700000 16700000 Deletion NDE1 Neurodevelopmental Syndrome
17 98911 16 21700000 27600000 Translocation Neurodevelopmental disorder
18 99621 16 27600000 34400000 Microduplication neurodevelopmental Syndrome
19 102740 16 56700000 65200000 Translocation Neurodevelopmental disorder
20 106835 17 1 3300000 Deletion Neurodevelopmental disorder
21 107576 17 16000000 22200000 Deletion Neurodevelopmental disorder
22 109392 17 25800000 31800000 Deletion Neurodevelopmental disorder
23 111432 17 3600000 6800000 Translocation NLRP1 Neurodevelopmental disorder
24 119293 18 10900000 15400000 Translocation C18orf1 Neurodevelopmental disorder
25 121720 18 46400000 52000000 Translocation TCF4 Neurodevelopmental disorder
26 124213 19 1 6900000 Translocation GTF2F1 Neurodevelopmental disorder
27 127258 19 30200000 37100000 Translocation ZNF507 Neurodevelopmental disorder
28 134327 2 1 4300000 Translocation Neurodevelopmental disorder
29 140385 2 197100000 203500000 Translocation SATB2 Neurodevelopmental disorder
30 144935 2 31900000 182700000 Inversion SPAST Neurodevelopmental disorder
31 145436 2 38400000 41600000 Translocation Neurodevelopmental disorder
32 161252 22 17900000 25900000 Deletion or duplicat ion Neurodevelopmental disorder
33 167443 3 118800000 120500000 Translocation Neurodevelopmental disorder
34 170389 3 153500000 156300000 Translocation MBNL1 Neurodevelopmental disorder
35 170572 3 156300000 158100000 Translocation Neurodevelopmental disorder
36 172151 3 177300000 180600000 Translocation Neurodevelopmental disorder
37 173417 3 193800000 199501827 Deletion Neurodevelopmental disorder
38 178371 3 71800000 74200000 Translocation FOXP1 Neurodevelopmental disorder
39 178908 3 81800000 118800000 Inversion ZBTB20 Neurodevelopmental disorder
40 198019 5 18500000 24700000 Inversion Neurodevelopmental disorder
41 201090 5 65300000 130400000 Translocation Neurodevelopmental disorder
42 204683 6 113900000 170899992 Inversion BET3L Neurodevelopmental disorder
43 204684 6 113900000 170899992 Inversion PDE10A Neurodevelopmental disorder
44 215985 6 84700000 87500000 Translocation Neurodevelopmental disorder
45 216424 6 92100000 98700000 Translocation MIR548H3 Neurodevelopmental disorder
46 216902 6 99900000 104800000 Translocation RTN4IP1 Neurodevelopmental disorder
47 217059 2 936554 1350391 Translocation SNTG2 Neurodevelopmental disorder
48 218782 7 117200000 120900000 Translocation KCND2 Neurodevelopmental disorder
49 219436 7 126900000 129000000 Translocation METTL2B Neurodevelopmental disorder
50 224632 7 35600000 37500000 Translocation LOC401324 Neurodevelopmental disorder

Expression for Cerebellar Atrophy, Developmental Delay, and Seizures

Search GEO for disease gene expression data for Cerebellar Atrophy, Developmental Delay, and Seizures.

Pathways for Cerebellar Atrophy, Developmental Delay, and Seizures

GO Terms for Cerebellar Atrophy, Developmental Delay, and Seizures

Sources for Cerebellar Atrophy, Developmental Delay, and Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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