CHEGDD
MCID: CRB215
MIFTS: 35

Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay (CHEGDD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

MalaCards integrated aliases for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

Name: Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 57 73
Chegdd 57 73
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cerebellar hypoplasia-tapetoretinal degeneration syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
five patients from 3 unrelated families have been reported (last curated january 2020)
seizure onset in childhood


HPO:

31
cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

OMIM® : 57 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia and developmental delay with subsequent impaired intellectual development and severe speech delay. In childhood, affected individuals show delayed walking and develop epilepsy that is usually controlled by medication. Brain imaging shows cerebellar hypoplasia/atrophy (summary by Wang et al., 2019). (213000) (Updated 05-Mar-2021)

MalaCards based summary : Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay, also known as chegdd, is related to dyskinetic cerebral palsy and diaphragmatic eventration. An important gene associated with Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay is OXR1 (Oxidation Resistance 1). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 73 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay: An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy.

Related Diseases for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Graphical network of the top 20 diseases related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:



Diseases related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay

Symptoms & Phenotypes for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Human phenotypes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

58 31 (showing 12, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
8 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
9 hypotonia 31 hallmark (90%) HP:0001252
10 tremor 31 HP:0001337
11 muscular hypotonia 58 Very frequent (99-80%)
12 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

Head And Neck Eyes:
hypertelorism

Skeletal Hands:
long fingers

Skeletal:
joint hyperlaxity

Skeletal Feet:
long toes

Neurologic Central Nervous System:
global developmental delay
cerebellar dysplasia
speech delay
delayed walking
impaired intellectual development
more
Head And Neck Face:
large forehead
dysmorphic features, subtle and nonspecific (in some patients)
tall face

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

Clinical features from OMIM®:

213000 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

46 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ARID1A ATAD3A AUTS2 BCL11A CASK DDX3X
2 mortality/aging MP:0010768 10.03 ARID1A ATAD3A AUTS2 BCL11A CASK DDX3X
3 embryo MP:0005380 9.87 ARID1A ATAD3A AUTS2 DDX3X DKC1 FGFR1
4 muscle MP:0005369 9.63 ARID1A ATAD3A DDX3X FGFR1 PLA2G6 PMM2
5 nervous system MP:0003631 9.61 ARID1A AUTS2 BCL11A CASK DDX3X FGFR1
6 skeleton MP:0005390 9.17 ARID1A ATAD3A AUTS2 CASK FGFR1 PLA2G6

Drugs & Therapeutics for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Search Clinical Trials , NIH Clinical Center for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay

Genetic Tests for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Anatomical Context for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

MalaCards organs/tissues related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

40
Brain, Eye

Publications for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Articles related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

(showing 8, show less)
# Title Authors PMID Year
1
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. 57 6
31785787 2019
2
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. 57
22028674 2011
3
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. 57
1622524 1992
4
Autosomal recessive cerebellar hypoplasia. 57
2768782 1989
5
Autosomal recessive congenital cerebellar hypoplasia. 57
3995786 1985
6
ARRESTED CEREBELLAR DEVELOPMENT: A TYPE OF CEREBELLAR DEGENERATION IN AMAUROTIC IDIOCY. 57
14123923 1964
7
Cerebellar hypoplasia associated with systemic degeneration in early life. 57
13576165 1958
8
[2 Cases of cerebellar hypoplasia in the same family]. 57
13445326 1957

Variations for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

ClinVar genetic disease variations for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

6 (showing 120, show less)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
2 FLG-AS1 NM_002016.1(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
3 ATAD3A NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) SNV Pathogenic 637018 rs1570345942 1:1460622-1460622 1:1525242-1525242
4 OXR1 NM_018002.3(OXR1):c.2082+1G>T SNV Pathogenic 694397 rs1587302415 8:107751812-107751812 8:106739584-106739584
5 OXR1 NM_018002.3(OXR1):c.1100C>G (p.Ser367Ter) SNV Pathogenic 694396 rs1587174071 8:107718849-107718849 8:106706621-106706621
6 OXR1 NM_018002.3(OXR1):c.1324del (p.Ser442fs) Deletion Pathogenic 694387 8:107719072-107719072 8:106706844-106706844
7 OXR1 NM_018002.3(OXR1):c.2236-1G>C SNV Pathogenic 694388 8:107754449-107754449 8:106742221-106742221
8 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867
9 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
10 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
11 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
12 CASK NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) SNV Likely pathogenic 195200 rs794727270 X:41712461-41712461 X:41853208-41853208
13 PMM2 NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) SNV Likely pathogenic 21143 rs80338703 16:8905003-8905003 16:8811146-8811146
14 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
15 STXBP1 NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) SNV Likely pathogenic 94116 rs398123695 9:130434370-130434370 9:127672091-127672091
16 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Likely pathogenic 204593 rs534542684 14:58899157-58899157 14:58432439-58432439
17 RARS2 NM_020320.5(RARS2):c.1650+5G>A SNV Likely pathogenic 632595 rs750433723 6:88224670-88224670 6:87514952-87514952
18 RARS2 NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) SNV Likely pathogenic 632596 rs1258569046 6:88239290-88239290 6:87529572-87529572
19 KIAA0586 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) Deletion Likely pathogenic 204596 rs770566897 14:58910790-58910791 14:58444072-58444073
20 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely pathogenic 812999 rs1596489887 16:8906908-8906908 16:8813051-8813051
21 AUTS2 NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) SNV Likely pathogenic 632598 rs1563183469 7:70231231-70231231 7:70766245-70766245
22 BCL11A NM_022893.4(BCL11A):c.295del (p.Val99fs) Deletion Likely pathogenic 632586 rs1558519119 2:60773196-60773196 2:60546061-60546061
23 DDX3X NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) SNV Likely pathogenic 207813 rs796052231 X:41204533-41204533 X:41345280-41345280
24 DDX3X NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr) SNV Likely pathogenic 632603 rs1569240005 X:41205605-41205605 X:41346352-41346352
25 DKC1 NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) SNV Likely pathogenic 379736 rs1057520719 X:154001502-154001502 X:154773227-154773227
26 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
27 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
28 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
29 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Likely pathogenic 633616 rs1589088702 10:1126406-1126406 10:1080466-1080466
30 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Likely pathogenic 633617 rs1589088690 10:1126376-1126376 10:1080436-1080436
31 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Likely pathogenic 633618 rs1589088703 10:1126409-1126409 10:1080469-1080469
32 SETD2 NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) SNV Likely pathogenic 388568 rs1057523157 3:47129662-47129662 3:47088172-47088172
33 STXBP1 NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) SNV Likely pathogenic 199083 rs794727970 9:130428485-130428485 9:127666206-127666206
34 TMLHE NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) SNV Likely pathogenic 632605 rs782785654 X:154754198-154754198 X:155524537-155524537
35 TUBA1A NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) SNV Likely pathogenic 632599 rs1565627707 12:49580440-49580440 12:49186657-49186657
36 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
37 ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) SNV Likely pathogenic 523488 rs375761808 1:27102164-27102164 1:26775673-26775673
38 SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851
39 KCTD3 NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) Deletion Likely pathogenic 183346 rs730882243 1:215775441-215775478 1:215602099-215602136
40 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) SNV Likely pathogenic 374192 rs1057518963 X:67430081-67430081 X:68210239-68210239
41 CASK NM_001367721.1(CASK):c.2236+1delinsAT Indel Likely pathogenic 523464 rs1555975523 X:41394145-41394145 X:41534892-41534892
42 BCL11A NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) Deletion Likely pathogenic 632585 rs1558612412 2:60688416-60688446 2:60461281-60461311
43 CASK NM_001367721.1(CASK):c.2156-1G>A SNV Likely pathogenic 632600 rs1569291261 X:41394227-41394227 X:41534974-41534974
44 CASK NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) Duplication Likely pathogenic 632602 rs1569295677 X:41401978-41401979 X:41542725-41542726
45 CASK NM_001367721.1(CASK):c.533-2A>G SNV Likely pathogenic 632601 rs1569380062 X:41524707-41524707 X:41665454-41665454
46 FGFR1 NM_023105.3(FGFR1):c.1614G>C (p.Arg538Ser) SNV Likely pathogenic 632588 rs1563436265 8:38272393-38272393 8:38414875-38414875
47 FOXP1 NM_032682.6(FOXP1):c.622C>T (p.Gln208Ter) SNV Likely pathogenic 498786 rs1553709881 3:71096135-71096135 3:71046984-71046984
48 TUBB2A NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) SNV Likely pathogenic 127100 rs886037663 6:3154694-3154694 6:3154460-3154460
49 AHDC1 NM_001029882.3(AHDC1):c.997del (p.Ala333fs) Deletion Likely pathogenic 632597 rs1557667078 1:27877630-27877630 1:27551119-27551119
50 FOXP1 NM_032682.6(FOXP1):c.44C>T (p.Ala15Val) SNV Likely pathogenic 211043 rs532329866 3:71247489-71247489 3:71198338-71198338
51 CASK NC_000023.11:g.41506506_41542250del Deletion Likely pathogenic 812931 X:41365759-41401503
52 OPHN1 Deletion Likely pathogenic 979057 X:68142437-68333040
53 L1CAM NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) SNV Likely pathogenic 10001 rs137852526 X:153135930-153135930 X:153870475-153870475
54 SPTAN1 NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) SNV Likely pathogenic 429871 rs1131691643 9:131374047-131374047 9:128611768-128611768
55 VLDLR-AS1 NM_003383.5(VLDLR):c.-42_-40GGC[5] Microsatellite Conflicting interpretations of pathogenicity 290493 rs71329437 9:2622147-2622155 9:2622147-2622155
56 VLDLR-AS1 NM_003383.5(VLDLR):c.-42_-40GGC[9] Microsatellite Conflicting interpretations of pathogenicity 287823 rs71329437 9:2622146-2622147 9:2622146-2622147
57 VLDLR NM_003383.5(VLDLR):c.*595_*598dup Duplication Uncertain significance 366384 rs886063814 9:2654460-2654461 9:2654460-2654461
58 VLDLR-AS1 NM_003383.5(VLDLR):c.-25_-24insATCCAG Insertion Uncertain significance 366357 rs886063807 9:2622165-2622166 9:2622165-2622166
59 VLDLR NM_003383.5(VLDLR):c.*490T>G SNV Uncertain significance 366381 rs886063812 9:2654358-2654358 9:2654358-2654358
60 VLDLR-AS1 NM_003383.5(VLDLR):c.-56_-54del Deletion Uncertain significance 366353 rs886063804 9:2622132-2622134 9:2622132-2622134
61 VLDLR NM_003383.5(VLDLR):c.540C>T (p.Ser180=) SNV Uncertain significance 366362 rs367872112 9:2643251-2643251 9:2643251-2643251
62 VLDLR-AS1 NM_003383.5(VLDLR):c.-42_-40GGC[4] Microsatellite Uncertain significance 366356 rs71329437 9:2622147-2622158 9:2622147-2622158
63 VLDLR-AS1 NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC Insertion Uncertain significance 366358 rs1554617688 9:2622167-2622168 9:2622167-2622168
64 VLDLR NM_003383.5(VLDLR):c.943+10del Deletion Uncertain significance 366367 rs761373572 9:2643758-2643758 9:2643758-2643758
65 VLDLR-AS1 NM_003383.5(VLDLR):c.-42_-40GGC[7] Microsatellite Uncertain significance 366355 rs71329437 9:2622147-2622149 9:2622147-2622149
66 VLDLR-AS1 NM_003383.5(VLDLR):c.-167dup Duplication Uncertain significance 366346 rs886063801 9:2622018-2622019 9:2622018-2622019
67 VLDLR NM_003383.5(VLDLR):c.*63C>T SNV Uncertain significance 366377 rs17848373 9:2653931-2653931 9:2653931-2653931
68 VLDLR-AS1 NM_003383.5(VLDLR):c.-111C>T SNV Uncertain significance 366351 rs374367278 9:2622079-2622079 9:2622079-2622079
69 VLDLR NM_003383.5(VLDLR):c.792C>T (p.Cys264=) SNV Uncertain significance 212564 rs141850403 9:2643503-2643503 9:2643503-2643503
70 VLDLR NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) SNV Uncertain significance 130704 rs148487944 9:2646492-2646492 9:2646492-2646492
71 VLDLR NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) SNV Uncertain significance 366370 rs372963310 9:2647525-2647525 9:2647525-2647525
72 VLDLR NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) SNV Uncertain significance 194212 rs35339834 9:2648286-2648286 9:2648286-2648286
73 VLDLR-AS1 NM_003383.5(VLDLR):c.-335C>T SNV Uncertain significance 366345 rs557105742 9:2621855-2621855 9:2621855-2621855
74 VLDLR-AS1 NM_003383.5(VLDLR):c.-122T>C SNV Uncertain significance 366348 rs886063802 9:2622068-2622068 9:2622068-2622068
75 SH3KBP1 GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 X:19030055-19591281
76 BCOR NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala) SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416
77 USH2A NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) SNV Uncertain significance 48425 rs397517987 1:215844420-215844420 1:215671078-215671078
78 VLDLR NM_003383.5(VLDLR):c.449-12C>T SNV Uncertain significance 366360 rs73640152 9:2643148-2643148 9:2643148-2643148
79 VLDLR NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) SNV Uncertain significance 212561 rs145995735 9:2643443-2643443 9:2643443-2643443
80 VLDLR NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) SNV Uncertain significance 130706 rs79720897 9:2648747-2648747 9:2648747-2648747
81 VLDLR-AS1 NM_003383.5(VLDLR):c.-171G>C SNV Uncertain significance 366347 rs35763266 9:2622019-2622019 9:2622019-2622019
82 VLDLR-AS1 NM_003383.5(VLDLR):c.-113C>G SNV Uncertain significance 366350 rs34433332 9:2622077-2622077 9:2622077-2622077
83 VLDLR NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) SNV Uncertain significance 212553 rs182216426 9:2646381-2646381 9:2646381-2646381
84 VLDLR NM_003383.5(VLDLR):c.*517G>C SNV Uncertain significance 366382 rs886063813 9:2654385-2654385 9:2654385-2654385
85 VLDLR NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) SNV Uncertain significance 366366 rs886063809 9:2643670-2643670 9:2643670-2643670
86 VLDLR NM_003383.5(VLDLR):c.1066+14T>C SNV Uncertain significance 366368 rs762128149 9:2643973-2643973 9:2643973-2643973
87 VLDLR NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) SNV Uncertain significance 366374 rs116082439 9:2652909-2652909 9:2652909-2652909
88 VLDLR NM_003383.5(VLDLR):c.582C>T (p.Gly194=) SNV Uncertain significance 366363 rs148012674 9:2643293-2643293 9:2643293-2643293
89 VLDLR NM_003383.5(VLDLR):c.*460G>A SNV Uncertain significance 366380 rs550310153 9:2654328-2654328 9:2654328-2654328
90 VLDLR NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) SNV Uncertain significance 366361 rs777739092 9:2643216-2643216 9:2643216-2643216
91 VLDLR NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) SNV Uncertain significance 366371 rs115773578 9:2647561-2647561 9:2647561-2647561
92 VLDLR NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) SNV Uncertain significance 366373 rs886063811 9:2648809-2648809 9:2648809-2648809
93 VLDLR NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) SNV Uncertain significance 366372 rs754226022 9:2648672-2648672 9:2648672-2648672
94 VLDLR-AS1 NM_003383.5(VLDLR):c.-121C>T SNV Uncertain significance 366349 rs886063803 9:2622069-2622069 9:2622069-2622069
95 VLDLR NM_003383.5(VLDLR):c.*16T>C SNV Uncertain significance 366375 rs150475109 9:2653884-2653884 9:2653884-2653884
96 VLDLR NM_003383.5(VLDLR):c.692G>A (p.Arg231His) SNV Uncertain significance 366364 rs767529669 9:2643403-2643403 9:2643403-2643403
97 VLDLR NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) SNV Uncertain significance 366365 rs886063808 9:2643669-2643669 9:2643669-2643669
98 VLDLR NM_003383.5(VLDLR):c.*83C>T SNV Uncertain significance 366378 rs755339168 9:2653951-2653951 9:2653951-2653951
99 VLDLR NM_003383.5(VLDLR):c.1703+10C>G SNV Uncertain significance 366369 rs372047946 9:2646562-2646562 9:2646562-2646562
100 VLDLR NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) SNV Uncertain significance 212555 rs35948251 9:2648223-2648223 9:2648223-2648223
101 VLDLR-AS1 NM_003383.5(VLDLR):c.-392C>T SNV Uncertain significance 366344 rs867729388 9:2621798-2621798 9:2621798-2621798
102 VLDLR-AS1 NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) SNV Uncertain significance 366359 rs754340855 9:2622260-2622260 9:2622260-2622260
103 USH2A NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) SNV Uncertain significance 48481 rs146824138 1:216462627-216462627 1:216289285-216289285
104 MACF1 NM_012090.5(MACF1):c.15938G>A (p.Arg5313Gln) SNV Uncertain significance 632589 rs1218844508 1:39950304-39950304 1:39484632-39484632
105 SEMA6B NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met) SNV Uncertain significance 632590 rs1279041694 19:4544446-4544446 19:4544434-4544434
106 VLDLR NM_003383.5(VLDLR):c.*48C>T SNV Uncertain significance 366376 rs368949453 9:2653916-2653916 9:2653916-2653916
107 VLDLR NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) SNV Likely benign 130703 rs6143 9:2645719-2645719 9:2645719-2645719
108 VLDLR NM_003383.5(VLDLR):c.944-5T>C SNV Likely benign 130715 rs35782329 9:2643832-2643832 9:2643832-2643832
109 VLDLR NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) SNV Likely benign 130705 rs6149 9:2635545-2635545 9:2635545-2635545
110 VLDLR NM_003383.5(VLDLR):c.1187-3C>T SNV Likely benign 130701 rs11789583 9:2644954-2644954 9:2644954-2644954
111 VLDLR NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) SNV Likely benign 130707 rs6148 9:2648773-2648773 9:2648773-2648773
112 VLDLR NM_003383.5(VLDLR):c.468C>T (p.Pro156=) SNV Likely benign 130712 rs2242105 9:2643179-2643179 9:2643179-2643179
113 VLDLR NM_003383.5(VLDLR):c.*551T>C SNV Likely benign 366383 rs8210 9:2654419-2654419 9:2654419-2654419
114 VLDLR-AS1 NM_003383.5(VLDLR):c.24G>A (p.Ala8=) SNV Likely benign 130710 rs34336270 9:2622213-2622213 9:2622213-2622213
115 DYNC1H1 NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu) SNV Likely benign 374086 rs1057518888 14:102483128-102483128 14:102016791-102016791
116 VLDLR-AS1 NM_003383.5(VLDLR):c.-56C>T SNV Benign 366354 rs34881325 9:2622134-2622134 9:2622134-2622134
117 VLDLR-AS1 NM_003383.5(VLDLR):c.82+7G>A SNV Benign 130713 rs2219143 9:2622278-2622278 9:2622278-2622278
118 VLDLR-AS1 NM_003383.5(VLDLR):c.-69A>G SNV Benign 366352 rs12379259 9:2622121-2622121 9:2622121-2622121
119 VLDLR NM_003383.5(VLDLR):c.*180G>A SNV Benign 366379 rs3421 9:2654048-2654048 9:2654048-2654048
120 VLDLR NM_003383.5(VLDLR):c.2416+8G>T SNV Benign 130709 rs6145 9:2651962-2651962 9:2651962-2651962

Expression for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Search GEO for disease gene expression data for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay.

Pathways for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

GO Terms for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Sources for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

3 CDC
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10 dbSNP
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29 GTR
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