Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MSCCA MCID: MCR355 MIFTS: 34	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy (MSCCA) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Microcephaly, Progressive, with Seizures and Cerebral and...

MalaCards integrated aliases for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Name: Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy ⁵⁷ ⁷² ²⁹ ⁶ ⁷⁰

Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy ⁵⁷ ³⁹

Mscca ⁵⁷ ⁷²

Diffuse Cerebral and Cerebellar Atrophy-Intractable Seizures-Progressive Microcephaly Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or early infancy
dysmorphic features are variable
two unrelated families have been reported (last curated april 2014)

HPO:

³¹

microcephaly, progressive, with seizures and cerebral and cerebellar atrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Other disorders of the nervous system

Other disorders of nervous system, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 615760

MeSH ⁴⁴ D008831 D012640

ICD10 via Orphanet ³³ G98

Orphanet ⁵⁸ ORPHA404437

MedGen ⁴¹ C4014239 CN186296

SNOMED-CT via HPO ⁶⁸ 111007000 204043002 224958001 more

UMLS ⁷⁰ C4014239

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Summaries for Microcephaly, Progressive, with Seizures and Cerebral and...

UniProtKB/Swiss-Prot : ⁷² Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy: A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia.

MalaCards based summary : Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy, is also known as microcephaly, progressive, seizures, and cerebral and cerebellar atrophy. An important gene associated with Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy is QARS1 (Glutaminyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include cortex, brain and prostate, and related phenotypes are hyperreflexia and simplified gyral pattern

OMIM® : ⁵⁷ Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia (summary by Zhang et al., 2014). (615760) (Updated 05-Apr-2021)

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Related Diseases for Microcephaly, Progressive, with Seizures and Cerebral and...

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Symptoms & Phenotypes for Microcephaly, Progressive, with Seizures and Cerebral and...

Human phenotypes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	hyperreflexia ³¹	occasional (7.5%)	HP:0001347
2	simplified gyral pattern ³¹	occasional (7.5%)	HP:0009879
3	global developmental delay ³¹		HP:0001263
4	microcephaly ³¹		HP:0000252
5	low-set ears ³¹		HP:0000369
6	epicanthus ³¹		HP:0000286
7	ventriculomegaly ³¹		HP:0002119
8	hypotelorism ³¹		HP:0000601
9	sloping forehead ³¹		HP:0000340
10	hypoplasia of the corpus callosum ³¹		HP:0002079
11	status epilepticus ³¹		HP:0002133
12	posteriorly rotated ears ³¹		HP:0000358
13	cerebral atrophy ³¹		HP:0002059
14	generalized hypotonia ³¹		HP:0001290
15	cerebellar vermis atrophy ³¹		HP:0006855
16	narrow forehead ³¹		HP:0000341
17	cns hypomyelination ³¹		HP:0003429
18	progressive microcephaly ³¹		HP:0000253

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
sloping forehead
bitemporal narrowing
microcephaly, progressive (-3 to -10 sd)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypotelorism
epicanthal folds
lack of visual contact

Neurologic Central Nervous System:
status epilepticus
cerebral atrophy
hypotonia
enlarged ventricles
hypomyelination
more

Head And Neck Nose:
broad, flat nasal bridge

Clinical features from OMIM®:

615760 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Negative genetic interaction between MUS81-/- and MUS81+/+	GR00255-A-2	8.62	EPRS1 QARS1

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Drugs & Therapeutics for Microcephaly, Progressive, with Seizures and Cerebral and...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy

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Genetic Tests for Microcephaly, Progressive, with Seizures and Cerebral and...

Genetic tests related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

#	Genetic test	Affiliating Genes
1	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy ²⁹	QARS1

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Anatomical Context for Microcephaly, Progressive, with Seizures and Cerebral and...

MalaCards organs/tissues related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

⁴⁰

Cortex, Brain, Prostate

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Publications for Microcephaly, Progressive, with Seizures and Cerebral and...

Articles related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

(show all 13)

#	Title	Authors	PMID	Year
1	Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. ⁶ ⁵⁷	Zhang X...Nabbout R	24656866	2014
2	The crystal structure of human GlnRS provides basis for the development of neurological disorders. ⁶	Ognjenovic J...Simonovic M	26869582	2016
3	Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. ⁶	Salvarinova R...van Karnebeek CD	25432320	2015
4	Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. ⁶	Kodera H...Matsumoto N	25471517	2015
5	A single-center 10-year retrospective study of clinical features and surgical treatment of spinal metastasis from cholangiocarcinoma. ⁶¹	Liu S...Liu Y	33353354	2021
6	Inter- and Intra-Subject Transfer Reduces Calibration Effort for High-Speed SSVEP-Based BCIs. ⁶¹	Wong CM...Wan F	32841119	2020
7	Surgical Margins: The Perspective of Pathology. ⁶¹	Magliocca KR	28709535	2017
8	Single mechanosensitive and Ca²⁺-sensitive channel currents recorded from mouse and human embryonic stem cells. ⁶¹	Soria B...Hamill OP	23188062	2013
9	Mechanosensitive Ca(2+) permeant cation channels in human prostate tumor cells. ⁶¹	Maroto R...Hamill OP	22874798	2012
10	Revisiting TRPC1 and TRPC6 mechanosensitivity. ⁶¹	Gottlieb P...Honore E	17957383	2008
11	MscCa Regulation of Tumor Cell Migration and Metastasis. ⁶¹	Maroto R...Hamill OP	25168147	2007
12	Mechanosensitive channels in neurite outgrowth. ⁶¹	Pellegrino M...Pellegrini M	25168135	2007
13	TRPC1 forms the stretch-activated cation channel in vertebrate cells. ⁶¹	Maroto R...Hamill OP	15665854	2005

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Genes for Microcephaly, Progressive, with Seizures and Cerebral and...

Genes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	QARS1	Glutaminyl-TRNA Synthetase 1	Protein Coding	1346.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24656866 26869582
2	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24656866

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Variations for Microcephaly, Progressive, with Seizures and Cerebral and...

ClinVar genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

⁶ (show top 50) (show all 215)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	QARS1	NM_005051.3(QARS1):c.134G>T (p.Gly45Val)	SNV	Pathogenic	127115	rs587777331	GRCh37: 3:49141888-49141888 GRCh38: 3:49104455-49104455
2	QARS1	NM_005051.3(QARS1):c.169T>C (p.Tyr57His)	SNV	Pathogenic	127117	rs587777333	GRCh37: 3:49141853-49141853 GRCh38: 3:49104420-49104420
3	QARS1	NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	SNV	Pathogenic	127118	rs587777334	GRCh37: 3:49136848-49136848 GRCh38: 3:49099415-49099415
4	QARS1	NM_005051.3(QARS1):c.1387C>T (p.Arg463Ter)	SNV	Pathogenic	477827	rs755674457	GRCh37: 3:49137195-49137195 GRCh38: 3:49099762-49099762
5	QARS1	NM_005051.3(QARS1):c.585del (p.Arg195_Leu196insTer)	Deletion	Pathogenic	477841	rs1241706645	GRCh37: 3:49139684-49139684 GRCh38: 3:49102251-49102251
6	QARS1	NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)	Deletion	Pathogenic	544132	rs775652214	GRCh37: 3:49137404-49137405 GRCh38: 3:49099971-49099972
7	QARS1	NM_005051.3(QARS1):c.1612del (p.Arg538fs)	Deletion	Pathogenic	544142	rs1553751717	GRCh37: 3:49136779-49136779 GRCh38: 3:49099346-49099346
8	QARS1	NM_005051.3(QARS1):c.1567C>T (p.Arg523Ter)	SNV	Pathogenic	566178	rs767667312	GRCh37: 3:49136824-49136824 GRCh38: 3:49099391-49099391
9	QARS1	NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)	SNV	Pathogenic	828125	rs752600100	GRCh37: 3:49137729-49137729 GRCh38: 3:49100296-49100296
10	QARS1	NM_005051.3(QARS1):c.387_390dup (p.Asn131delinsTyrTer)	Duplication	Pathogenic	997652		GRCh37: 3:49141124-49141125 GRCh38: 3:49103691-49103692
11	QARS1	NM_005051.3(QARS1):c.1689_1690CA[1] (p.Thr564fs)	Microsatellite	Pathogenic	580993	rs1559966797	GRCh37: 3:49136609-49136610 GRCh38: 3:49099176-49099177
12	QARS1	NM_005051.3(QARS1):c.1009_1012del (p.Asp337fs)	Deletion	Pathogenic	863518		GRCh37: 3:49137856-49137859 GRCh38: 3:49100423-49100426
13	QARS1	NM_005051.3(QARS1):c.1081C>T (p.Arg361Ter)	SNV	Pathogenic	941594		GRCh37: 3:49137706-49137706 GRCh38: 3:49100273-49100273
14	QARS1	NM_005051.3(QARS1):c.425dup (p.Tyr142Ter)	Duplication	Pathogenic	957907		GRCh37: 3:49141089-49141090 GRCh38: 3:49103656-49103657
15	QARS1	NM_005051.3(QARS1):c.256del (p.Gln86fs)	Deletion	Pathogenic	965194		GRCh37: 3:49141766-49141766 GRCh38: 3:49104333-49104333
16	QARS1	NM_005051.3(QARS1):c.1699C>T (p.Arg567Ter)	SNV	Pathogenic	860157		GRCh37: 3:49136602-49136602 GRCh38: 3:49099169-49099169
17	QARS1	NM_005051.3(QARS1):c.851_852insGC (p.Ile284fs)	Insertion	Pathogenic	1034152		GRCh37: 3:49138812-49138813 GRCh38: 3:49101379-49101380
18	QARS1	NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)	SNV	Pathogenic/Likely pathogenic	984949		GRCh37: 3:49140817-49140817 GRCh38: 3:49103384-49103384
19	QARS1	NM_005051.3(QARS1):c.2085-3C>A	SNV	Likely pathogenic	634571	rs1024765171	GRCh37: 3:49135694-49135694 GRCh38: 3:49098261-49098261
20	QARS1	NM_005051.3(QARS1):c.1615-2A>T	SNV	Likely pathogenic	936875		GRCh37: 3:49136688-49136688 GRCh38: 3:49099255-49099255
21	QARS1	NM_005051.3(QARS1):c.789+1G>T	SNV	Likely pathogenic	846851		GRCh37: 3:49139052-49139052 GRCh38: 3:49101619-49101619
22	QARS1	NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)	SNV	Conflicting interpretations of pathogenicity	127116	rs587777332	GRCh37: 3:49137482-49137482 GRCh38: 3:49100049-49100049
23	QARS1	NM_005051.3(QARS1):c.297G>C (p.Leu99Phe)	SNV	Uncertain significance	426951	rs147794116	GRCh37: 3:49141374-49141374 GRCh38: 3:49103941-49103941
24	QARS1	NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser)	SNV	Uncertain significance	477834	rs757743183	GRCh37: 3:49136349-49136349 GRCh38: 3:49098916-49098916
25	QARS1	NM_005051.3(QARS1):c.1388G>A (p.Arg463Gln)	SNV	Uncertain significance	544131	rs374178767	GRCh37: 3:49137194-49137194 GRCh38: 3:49099761-49099761
26	QARS1	NM_005051.3(QARS1):c.1195G>A (p.Glu399Lys)	SNV	Uncertain significance	544138	rs143072084	GRCh37: 3:49137494-49137494 GRCh38: 3:49100061-49100061
27	QARS1	NM_005051.3(QARS1):c.1246G>A (p.Val416Ile)	SNV	Uncertain significance	449755	rs147076980	GRCh37: 3:49137443-49137443 GRCh38: 3:49100010-49100010
28	QARS1	NM_005051.3(QARS1):c.1163A>G (p.Glu388Gly)	SNV	Uncertain significance	567795	rs777424712	GRCh37: 3:49137624-49137624 GRCh38: 3:49100191-49100191
29	QARS1	NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln)	SNV	Uncertain significance	571673	rs1559966841	GRCh37: 3:49136643-49136643 GRCh38: 3:49099210-49099210
30	QARS1	NM_005051.3(QARS1):c.2311G>A (p.Asp771Asn)	SNV	Uncertain significance	572730	rs754648501	GRCh37: 3:49133479-49133479 GRCh38: 3:49096046-49096046
31	QARS1	NM_005051.3(QARS1):c.668A>G (p.Gln223Arg)	SNV	Uncertain significance	578234	rs750460731	GRCh37: 3:49139296-49139296 GRCh38: 3:49101863-49101863
32	QARS1	NM_005051.3(QARS1):c.800G>A (p.Arg267Gln)	SNV	Uncertain significance	842521		GRCh37: 3:49138864-49138864 GRCh38: 3:49101431-49101431
33	QARS1	NM_005051.3(QARS1):c.2075A>G (p.Tyr692Cys)	SNV	Uncertain significance	844503		GRCh37: 3:49135795-49135795 GRCh38: 3:49098362-49098362
34	QARS1	NM_005051.3(QARS1):c.1280G>A (p.Arg427His)	SNV	Uncertain significance	850532		GRCh37: 3:49137409-49137409 GRCh38: 3:49099976-49099976
35	QARS1	NM_005051.3(QARS1):c.418G>C (p.Glu140Gln)	SNV	Uncertain significance	851630		GRCh37: 3:49141097-49141097 GRCh38: 3:49103664-49103664
36	QARS1	NM_005051.3(QARS1):c.8C>T (p.Ala3Val)	SNV	Uncertain significance	851800		GRCh37: 3:49142159-49142159 GRCh38: 3:49104726-49104726
37	QARS1	NM_005051.3(QARS1):c.2000G>A (p.Arg667Gln)	SNV	Uncertain significance	857029		GRCh37: 3:49135870-49135870 GRCh38: 3:49098437-49098437
38	QARS1	NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn)	SNV	Uncertain significance	857235		GRCh37: 3:49135487-49135487 GRCh38: 3:49098054-49098054
39	QARS1	NM_005051.3(QARS1):c.2152G>C (p.Ala718Pro)	SNV	Uncertain significance	864179		GRCh37: 3:49135550-49135550 GRCh38: 3:49098117-49098117
40	QARS1	NM_005051.3(QARS1):c.143T>C (p.Ile48Thr)	SNV	Uncertain significance	581949	rs201397059	GRCh37: 3:49141879-49141879 GRCh38: 3:49104446-49104446
41	QARS1	NM_005051.3(QARS1):c.769C>A (p.Leu257Met)	SNV	Uncertain significance	583355	rs1037854666	GRCh37: 3:49139073-49139073 GRCh38: 3:49101640-49101640
42	QARS1	NM_005051.3(QARS1):c.1479T>C (p.Val493=)	SNV	Uncertain significance	626156	rs776640127	GRCh37: 3:49136990-49136990 GRCh38: 3:49099557-49099557
43	QARS1	NM_005051.3(QARS1):c.1741A>G (p.Asn581Asp)	SNV	Uncertain significance	942852		GRCh37: 3:49136560-49136560 GRCh38: 3:49099127-49099127
44	QARS1	NM_005051.3(QARS1):c.224A>G (p.Tyr75Cys)	SNV	Uncertain significance	942891		GRCh37: 3:49141798-49141798 GRCh38: 3:49104365-49104365
45	QARS1	NM_005051.3(QARS1):c.1309A>T (p.Thr437Ser)	SNV	Uncertain significance	943235		GRCh37: 3:49137273-49137273 GRCh38: 3:49099840-49099840
46	QARS1	NM_005051.3(QARS1):c.1822T>G (p.Phe608Val)	SNV	Uncertain significance	949381		GRCh37: 3:49136359-49136359 GRCh38: 3:49098926-49098926
47	QARS1	NM_005051.3(QARS1):c.107C>T (p.Ala36Val)	SNV	Uncertain significance	949601		GRCh37: 3:49142060-49142060 GRCh38: 3:49104627-49104627
48	QARS1	NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg)	SNV	Uncertain significance	950132		GRCh37: 3:49133473-49133473 GRCh38: 3:49096040-49096040
49	QARS1	NM_005051.3(QARS1):c.214C>T (p.Leu72Phe)	SNV	Uncertain significance	952069		GRCh37: 3:49141808-49141808 GRCh38: 3:49104375-49104375
50	QARS1	NM_005051.3(QARS1):c.1700G>A (p.Arg567Gln)	SNV	Uncertain significance	952087		GRCh37: 3:49136601-49136601 GRCh38: 3:49099168-49099168

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	QARS1	p.Gly45Val	VAR_071189	rs587777331
2	QARS1	p.Tyr57His	VAR_071190	rs587777333
3	QARS1	p.Arg403Trp	VAR_071191	rs587777332
4	QARS1	p.Arg515Trp	VAR_071192	rs587777334

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Expression for Microcephaly, Progressive, with Seizures and Cerebral and...

Search GEO for disease gene expression data for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy.

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Pathways for Microcephaly, Progressive, with Seizures and Cerebral and...

Pathways related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	tRNA Aminoacylation ⁶⁵ Show member pathways Aminoacyl-tRNA biosynthesis ³⁶ Cytosolic tRNA aminoacylation ⁶⁵ Mitochondrial tRNA aminoacylation ⁶⁵ Pyrophosphate hydrolysis ⁶⁵ SeMet incorporation into proteins ⁶⁵	10.87	QARS1 EPRS1

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GO Terms for Microcephaly, Progressive, with Seizures and Cerebral and...

Cellular components related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	aminoacyl-tRNA synthetase multienzyme complex	GO:0017101	8.62	QARS1 EPRS1

Biological processes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation	GO:0006412	9.16	QARS1 EPRS1
2	tRNA aminoacylation for protein translation	GO:0006418	8.96	QARS1 EPRS1
3	tRNA aminoacylation	GO:0043039	8.62	QARS1 EPRS1

Molecular functions related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ligase activity	GO:0016874	8.96	QARS1 EPRS1
2	aminoacyl-tRNA ligase activity	GO:0004812	8.62	QARS1 EPRS1

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

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⁶⁷ SNOMED-CT

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy (MSCCA)

Aliases & Classifications for Microcephaly, Progressive, with Seizures and Cerebral and...

MalaCards integrated aliases for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Microcephaly, Progressive, with Seizures and Cerebral and...

Related Diseases for Microcephaly, Progressive, with Seizures and Cerebral and...

Symptoms & Phenotypes for Microcephaly, Progressive, with Seizures and Cerebral and...

Human phenotypes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Microcephaly, Progressive, with Seizures and Cerebral and...

Genetic Tests for Microcephaly, Progressive, with Seizures and Cerebral and...

Genetic tests related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Anatomical Context for Microcephaly, Progressive, with Seizures and Cerebral and...

MalaCards organs/tissues related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Publications for Microcephaly, Progressive, with Seizures and Cerebral and...

Articles related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Genes for Microcephaly, Progressive, with Seizures and Cerebral and...

Genes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy (2 elite genes):

Variations for Microcephaly, Progressive, with Seizures and Cerebral and...

ClinVar genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Expression for Microcephaly, Progressive, with Seizures and Cerebral and...

Pathways for Microcephaly, Progressive, with Seizures and Cerebral and...

Pathways related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

GO Terms for Microcephaly, Progressive, with Seizures and Cerebral and...

Cellular components related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

Biological processes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

Molecular functions related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

Sources for Microcephaly, Progressive, with Seizures and Cerebral and...