Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 213000

MeSH ⁴⁴ D065886

ICD10 via Orphanet ³³ Q04.3

Orphanet ⁵⁸ ORPHA2246

MedGen ⁴¹ C0266470 C5231391

SNOMED-CT via HPO ⁶⁸ 16026008 246635007 258211005 more

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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.

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

Diseases related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 16, show less)

#	Related Disease	Score	Top Affiliating Genes
1	dyskinetic cerebral palsy	10.2	TSEN54 ATAD3A
2	diaphragmatic eventration	10.2	TSEN54 OXR1
3	hypertonia	10.0	TSEN54 CASK
4	corpus callosum, agenesis of	10.0	BCL11A AUTS2
5	mental retardation and microcephaly with pontine and cerebellar hypoplasia	10.0	TSEN54 CASK
6	peho syndrome	10.0	TSEN54 CASK
7	intellectual disability - hypoplastic corpus callosum - preauricular tag	9.9	BCL11A AUTS2
8	pontocerebellar hypoplasia	9.9	TSEN54 CASK ATAD3A
9	lung large cell carcinoma	9.8	FGFR1 CASK
10	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	9.6	DDX3X AUTS2 ATAD3A AHDC1
11	coffin-siris syndrome 1	9.6	CASK AUTS2 ARID1A
12	autosomal dominant non-syndromic intellectual disability	9.6	AUTS2 ARID1A AHDC1
13	cerebellar hypoplasia	9.2	TSEN54 PMM2 OXR1 DKC1 CASK ATAD3A
14	alacrima, achalasia, and mental retardation syndrome	8.9	TSEN54 PMM2 DDX3X CASK BCL11A AUTS2
15	disease of mental health	8.3	TSEN54 PMM2 PLA2G6 OXR1 FGFR1 DDX3X
16	microcephaly	8.3	TSEN54 PLA2G6 FLG-AS1 DKC1 DDX3X CASK

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

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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

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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

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

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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

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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	Wang J...Campeau PM	31785787	2019
2	Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. ⁵⁷	Oliver PL...Davies KE	22028674	2011
3	Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. ⁵⁷	Dooley JM...Riding M	1622524	1992
4	Autosomal recessive cerebellar hypoplasia. ⁵⁷	Mathews KD...Hanson JW	2768782	1989
5	Autosomal recessive congenital cerebellar hypoplasia. ⁵⁷	Wichman A...Kelly TE	3995786	1985
6	ARRESTED CEREBELLAR DEVELOPMENT: A TYPE OF CEREBELLAR DEGENERATION IN AMAUROTIC IDIOCY. ⁵⁷	FRIEDE RL	14123923	1964
7	Cerebellar hypoplasia associated with systemic degeneration in early life. ⁵⁷	NORMAN RM...URICH H	13576165	1958
8	[2 Cases of cerebellar hypoplasia in the same family]. ⁵⁷	SARROUY C...BOINEAU N	13445326	1957

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

Genes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay (6 elite genes):

(showing 14, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	OXR1	Oxidation Resistance 1	Protein Coding	908.29	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders (show sections)	31785787
2	PMM2	Phosphomannomutase 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
3	ATAD3A	ATPase Family AAA Domain Containing 3A	Protein Coding	400	Pathogenic ⁶
4	FLG-AS1	FLG Antisense RNA 1	RNA Gene	400	Pathogenic ⁶
5	PLA2G6	Phospholipase A2 Group VI	Protein Coding	400	Pathogenic ⁶
6	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	400	Pathogenic ⁶
7	AHDC1	AT-Hook DNA Binding Motif Containing 1	Protein Coding	25	Likely pathogenic ⁶
8	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	25	Likely pathogenic ⁶
9	AUTS2	Activator Of Transcription And Developmental Regulator AUTS2	Protein Coding	25	Likely pathogenic ⁶
10	BCL11A	BAF Chromatin Remodeling Complex Subunit BCL11A	Protein Coding	25	Likely pathogenic ⁶
11	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	25	Likely pathogenic ⁶
12	DDX3X	DEAD-Box Helicase 3 X-Linked	Protein Coding	25	Likely pathogenic ⁶
13	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	25	Likely pathogenic ⁶
14	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	25	Likely pathogenic ⁶

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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

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

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

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

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

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

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

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

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Genes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay (6 elite genes):

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

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

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