CADEDS
MCID: CRB169
MIFTS: 32

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
Cadeds 58 76
Neurodevelopmental Disorders 74

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 cadeds, is related to arteries, anomalies of and breast cancer. 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:

# Related Disease Score Top Affiliating Genes
1 arteries, anomalies of 10.1
2 breast cancer 10.1
3 coronary artery anomaly 10.1
4 syncope 10.1
5 seizure disorder 10.1
6 alacrima, achalasia, and mental retardation syndrome 9.4 BRPF1 EBF3

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 generalized tonic-clonic seizures with focal onset 33 HP:0007334
4 cerebellar atrophy 33 HP:0001272
5 poor speech 33 HP:0002465

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 571)
# 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 53477758 439302
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 5311068 68602
6
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 51-84-3 187
7
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
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
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 99-66-1 3121
11
Dextroamphetamine Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-64-9 5826
12
Ziprasidone Approved Phase 4,Phase 2 146939-27-7 60854
13
Lithium carbonate Approved Phase 4,Phase 3 554-13-2
14
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
15
Topiramate Approved Phase 4,Phase 3 97240-79-4 5284627
16
Sertraline Approved Phase 4,Phase 3,Phase 2,Not Applicable 79617-96-2 68617
17
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
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 27284 23925
22
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
23
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
24
Vigabatrin Approved Phase 4,Phase 1,Phase 2 68506-86-5, 60643-86-9 5665
25
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
26
Nitrazepam Approved Phase 4,Not Applicable 146-22-5 4506
27
Gabapentin Approved, Investigational Phase 4,Early Phase 1 60142-96-3 3446
28
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
29
Rufinamide Approved Phase 4 106308-44-5 129228
30
Felbamate Approved Phase 4 25451-15-4 3331
31
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
32
Ethosuximide Approved Phase 4 77-67-8 3291
33
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
34
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
35
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
36
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
37
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
38
Oxcarbazepine Approved Phase 4,Not Applicable 28721-07-5 34312
39
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
40
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
41
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
42
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
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
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 16590-41-3 5360515
47
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-17-5 702
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 2418)
# 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

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, Bone Marrow

Publications for Cerebellar Atrophy, Developmental Delay, and Seizures

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

# Title Authors Year
1
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. ( 27567911 )
2016

Variations for Cerebellar Atrophy, Developmental Delay, and Seizures

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

6 (show all 15)
# 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 KCNMA1 NM_001014797.2(KCNMA1): c.460G> T (p.Ala154Ser) single nucleotide variant Uncertain significance rs142858967 GRCh37 Chromosome 10, 79163700: 79163700
12 KCNMA1 NM_001014797.2(KCNMA1): c.460G> T (p.Ala154Ser) single nucleotide variant Uncertain significance rs142858967 GRCh38 Chromosome 10, 77403942: 77403942
13 subset of 43 genes:PAFAH1B1 GRCh37/hg19 17p13.3(chr17: 1-2538512)x4,5 copy number gain Uncertain significance GRCh37 Chromosome 17, 1: 2538512
14 KCNMA1 NM_001014797.2(KCNMA1): c.2498A> G (p.Lys833Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 78708949: 78708949
15 KCNMA1 NM_001014797.2(KCNMA1): c.2498A> G (p.Lys833Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 76949191: 76949191

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
51 NCIt
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
Content
Loading form....