Seizures, Cortical Blindness, and Microcephaly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCBMS MCID: SZR027 MIFTS: 29	Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards integrated aliases for Seizures, Cortical Blindness, and Microcephaly Syndrome:

Name: Seizures, Cortical Blindness, and Microcephaly Syndrome ⁵⁶ ⁷³ ²⁹ ⁶

Scbms ⁵⁶ ⁷³

Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome ⁵⁸

Seizures, Cortical Blindness, Microcephaly Syndrome ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life

HPO:

³¹

seizures, cortical blindness, and microcephaly syndrome:
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)

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 616632

MeSH ⁴³ D008831 D012640 D019575

Orphanet ⁵⁸ ORPHA477814

MedGen ⁴¹ C4225261 CN233219

SNOMED-CT via HPO ⁶⁸ 128613002 204043002 237836003 more

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Summaries for Seizures, Cortical Blindness, and Microcephaly Syndrome

OMIM : ⁵⁶ Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (summary by Ercan-Sencicek et al., 2015). (616632)

MalaCards based summary : Seizures, Cortical Blindness, and Microcephaly Syndrome, is also known as scbms. An important gene associated with Seizures, Cortical Blindness, and Microcephaly Syndrome is DIAPH1 (Diaphanous Related Formin 1). The drugs Prucalopride and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are generalized hypotonia and microcephaly

UniProtKB/Swiss-Prot : ⁷³ Seizures, cortical blindness, and microcephaly syndrome: A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness.

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Related Diseases for Seizures, Cortical Blindness, and Microcephaly Syndrome

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Symptoms & Phenotypes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Human phenotypes related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

³¹ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	generalized hypotonia ³¹	occasional (7.5%)	HP:0001290
2	microcephaly ³¹		HP:0000252
3	optic atrophy ³¹		HP:0000648
4	short stature ³¹		HP:0004322
5	hypoplasia of the corpus callosum ³¹		HP:0002079
6	cerebral visual impairment ³¹		HP:0100704
7	poor speech ³¹		HP:0002465
8	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
seizures
hypoplasia of the corpus callosum
poor speech
delayed psychomotor development, moderate to severe

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia (in some patients)

Head And Neck Eyes:
optic atrophy
cortical blindness

Growth Other:
poor growth

Head And Neck Head:
microcephaly (up to -10 sd)

Clinical features from OMIM:

616632

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Drugs & Therapeutics for Seizures, Cortical Blindness, and Microcephaly Syndrome

Drugs for Seizures, Cortical Blindness, and Microcephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Prucalopride

Approved

Phase 4

179474-81-8

Lactulose

Approved

Phase 4

4618-18-2

11333

Synonyms:

(2S,3R,4S,5R,6R)-2-[(2R,3S,4S,5R)-4,5-Dihydroxy-2,5-bis(hydroxymethyl)oxolan-3-yl]oxy-6-(hydroxymethyl)oxane-3,4,5-triol

4-O-b-D-Galactopyranosyl-D-fructofuranose

4-O-b-D-Galactopyranosyl-D-fructose

4-O-beta-delta-Galactopyranosyl-delta-fructofuranose

4-O-beta-delta-Galactopyranosyl-delta-fructose

4-O-beta-D-Galactopyranosyl-D-fructofuranose

4-O-beta-D-Galactopyranosyl-D-fructose

4-O-β-D-galactopyranosyl-D-fructofuranose

4-O-β-D-galactopyranosyl-D-fructose

Amivalex

Bifiteral

Cephulac

delta-Lactulose

D-Lactulose

Duphalac

Lactulosa

Lactulose

Lactulosum

Normase

Laxatives

Phase 4

Cathartics

Phase 4

Neurotransmitter Agents

Phase 4

Serotonin Receptor Agonists

Phase 4

Gastrointestinal Agents

Phase 4

Serotonin

Investigational, Nutraceutical

Phase 4

50-67-9

5202

Synonyms:

3-(2-Aminoethyl)-1H-indol-5-ol

3-(2-Aminoethyl)indol-5-ol

3-(b-Aminoethyl)-5-hydroxyindole

5 Hydroxytryptamine

5-HT

5-HTA

5-Hydroxy-3-(b-aminoethyl)indole

5-Hydroxyltryptamine

5-Hydroxytriptamine

5-Hydroxytryptamine

5-Hydroxy-tryptamine

Antemovis

DS Substance

Enteramin

Enteramine

Hippophaine

Hydroxytryptamine

Serotonine

sérotonine

thrombocytin

Thrombocytin

thrombotonin

Thrombotonin

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Multicenter, Single-Arm, Interventional, Phase 4 Study to Evaluate the Efficacy and Safety of Prucalopride in Combination With PEG or Lactulose in Women With Chronic Constipation (CC)	Completed	NCT02228616	Phase 4	Prucalopride;Polyethylene glycol (PEG);Lactulose
2	A Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Prucalopride (Resolor) Tablets in Participants With Chronic Constipation	Completed	NCT01116206	Phase 3	Prucalopride;Placebo

Search NIH Clinical Center for Seizures, Cortical Blindness, and Microcephaly Syndrome

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Genetic Tests for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genetic tests related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

#	Genetic test	Affiliating Genes
1	Seizures, Cortical Blindness, and Microcephaly Syndrome ²⁹	DIAPH1

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Anatomical Context for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards organs/tissues related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

⁴⁰

Eye

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Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

Articles related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

(show all 12)

#	Title	Authors	PMID	Year
1	Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. ⁶ ⁵⁶	Ercan-Sencicek AG...State MW	24781755	2015
2	Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. ⁶	Al-Maawali A...Stoler JM	26463574	2016
3	Pericyte abnormalities precede strial capillary basement membrane thickening in Alport mice. ⁶¹	Dufek B...Cosgrove D	32234583	2020
4	Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial. ⁶¹	Lee HY...Choi SM	29903020	2018
5	Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. ⁶¹	Meehan DT...Cosgrove D	27553900	2016
6	Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials. ⁶¹	Camilleri M...Levine A	27056037	2016
7	A randomized, double-blind, placebo-controlled trial to evaluate the efficacy, safety, and tolerability of long-term treatment with prucalopride. ⁶¹	Piessevaux H...Levine A	25808103	2015
8	A randomized, double-blind, placebo-controlled, phase 3 trial to evaluate the efficacy, safety, and tolerability of prucalopride in men with chronic constipation. ⁶¹	Yiannakou Y...Levine A	25869393	2015
9	Effect of Prucalopride in the Treatment of Chronic Constipation in Asian and Non-Asian Women: A Pooled Analysis of 4 Randomized, Placebo-controlled Studies. ⁶¹	Ke M...Kim J	25273116	2014
10	Randomised clinical trial: macrogol/PEG 3350+electrolytes versus prucalopride in the treatment of chronic constipation -- a comparison in a controlled environment. ⁶¹	Cinca R...Halphen M	23480216	2013
11	Prucalopride in the treatment of chronic constipation in patients from the Asia-Pacific region: a randomized, double-blind, placebo-controlled study. ⁶¹	Ke M...Kim HJ	22882724	2012
12	Clinical trial: the efficacy, impact on quality of life, and safety and tolerability of prucalopride in severe chronic constipation--a 12-week, randomized, double-blind, placebo-controlled study. ⁶¹	Quigley EM...Ausma J	19035970	2009

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Genes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genes related to Seizures, Cortical Blindness, and Microcephaly Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1370.47	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24781755 26463574

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Variations for Seizures, Cortical Blindness, and Microcephaly Syndrome

ClinVar genetic disease variations for Seizures, Cortical Blindness, and Microcephaly Syndrome:

⁶ (show top 50) (show all 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DIAPH1	NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)	SNV	Pathogenic	522646	rs369494682	5:140961936-140961936	5:141582369-141582369
2	DIAPH1	GRCh37/hg19 5q31.3(chr5:140953993-140992629)	copy number loss	Pathogenic	625826		5:140953993-140992629
3	DIAPH1	NC_000005.10:g.(?_141516831)_(141618934_?)del	deletion	Pathogenic	831117		5:140896398-140998501
4	DIAPH1	NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)	SNV	Pathogenic	839955		5:140954626-140954626	5:141575059-141575059
5	DIAPH1	NM_005219.5(DIAPH1):c.2769del (p.Phe923fs)	deletion	Pathogenic	217753	rs863225242	5:140908748-140908748	5:141529181-141529181
6	DIAPH1	NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	SNV	Pathogenic	217754	rs863225243	5:140908023-140908023	5:141528456-141528456
7	DIAPH1	NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	SNV	Pathogenic/Likely pathogenic	183344	rs730882242	5:140953085-140953085	5:141573518-141573518
8	DIAPH1	NM_005219.5(DIAPH1):c.77dup (p.Pro27fs)	duplication	Likely pathogenic	800526		5:140998404-140998405	5:141618837-141618838
9	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[9] (p.Pro619_Pro620del)	short repeat	Conflicting interpretations of pathogenicity	351294	rs3075570	5:140953564-140953569	5:141573997-141574002
10	DIAPH1	NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)	SNV	Conflicting interpretations of pathogenicity	351296	rs193036129	5:140955835-140955835	5:141576268-141576268
11	DIAPH1	NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)	SNV	Conflicting interpretations of pathogenicity	227300	rs189809247	5:140953648-140953648	5:141574081-141574081
12	DIAPH1	NM_005219.5(DIAPH1):c.685-5A>G	SNV	Conflicting interpretations of pathogenicity	228578	rs367786290	5:140960455-140960455	5:141580888-141580888
13	DIAPH1	NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)	SNV	Conflicting interpretations of pathogenicity	194639	rs182139018	5:140953681-140953681	5:141574114-141574114
14	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[8] (p.Pro618_Pro620del)	short repeat	Conflicting interpretations of pathogenicity	593399	rs3075570	5:140953564-140953572	5:141573997-141574005
15	DIAPH1	NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)	SNV	Conflicting interpretations of pathogenicity	582965	rs779376542	5:140908745-140908745	5:141529178-141529178
16	DIAPH1	NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)	SNV	Conflicting interpretations of pathogenicity	45216	rs201149420	5:140960448-140960448	5:141580881-141580881
17	DIAPH1	NM_005219.5(DIAPH1):c.579C>T (p.Asp193=)	SNV	Conflicting interpretations of pathogenicity	542372	rs202061556	5:140962814-140962814	5:141583247-141583247
18	DIAPH1	NM_005219.5(DIAPH1):c.969A>G (p.Thr323=)	SNV	Conflicting interpretations of pathogenicity	542369	rs369453319	5:140958157-140958157	5:141578590-141578590
19	DIAPH1	NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)	SNV	Conflicting interpretations of pathogenicity	542364	rs199749212	5:140953193-140953193	5:141573626-141573626
20	DIAPH1	NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)	SNV	Conflicting interpretations of pathogenicity	450432	rs200606811	5:140953259-140953259	5:141573692-141573692
21	DIAPH1	NM_005219.4(DIAPH1):c.3439-3del	deletion	Conflicting interpretations of pathogenicity	475707	rs1335130331	5:140905743-140905743	5:141526176-141526176
22	DIAPH1	NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met)	SNV	Uncertain significance	475705	rs1554201371	5:140908284-140908284	5:141528717-141528717
23	DIAPH1	NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu)	SNV	Uncertain significance	475700	rs751847293	5:140953408-140953408	5:141573841-141573841
24	DIAPH1	NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)	SNV	Uncertain significance	475701	rs199830182	5:140953318-140953318	5:141573751-141573751
25	DIAPH1	NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)	SNV	Uncertain significance	475696	rs367981585	5:140957053-140957053	5:141577486-141577486
26	DIAPH1	NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys)	SNV	Uncertain significance	475706	rs756003432	5:140905944-140905944	5:141526377-141526377
27	DIAPH1	NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)	SNV	Uncertain significance	444663	rs781577050	5:140905989-140905989	5:141526422-141526422
28	DIAPH1	NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val)	SNV	Uncertain significance	475709	rs764739820	5:140896536-140896536	5:141516969-141516969
29	DIAPH1	NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)	SNV	Uncertain significance	542358	rs201719002	5:140953669-140953669	5:141574102-141574102
30	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[14] (p.Pro618_Pro620dup)	short repeat	Uncertain significance	542361	rs3075570	5:140953563-140953564	5:141573996-141573997
31	DIAPH1	NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)	SNV	Uncertain significance	542357	rs1167599945	5:140896426-140896426	5:141516859-141516859
32	DIAPH1	NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)	SNV	Uncertain significance	542360	rs371664456	5:140896428-140896428	5:141516861-141516861
33	DIAPH1	NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)	SNV	Uncertain significance	504567	rs373275414	5:140908117-140908117	5:141528550-141528550
34	DIAPH1	NM_005219.5(DIAPH1):c.3574+6G>C	SNV	Uncertain significance	517343	rs538555634	5:140905599-140905599	5:141526032-141526032
35	DIAPH1	NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)	SNV	Uncertain significance	542362	rs1554199642	5:140896510-140896510	5:141516943-141516943
36	DIAPH1	NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu)	SNV	Uncertain significance	542356	rs1554200929	5:140905896-140905896	5:141526329-141526329
37	DIAPH1	NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)	SNV	Uncertain significance	542359	rs1303934222	5:140908071-140908071	5:141528504-141528504
38	DIAPH1	NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)	SNV	Uncertain significance	542363	rs1554201531	5:140909244-140909244	5:141529677-141529677
39	DIAPH1	NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)	SNV	Uncertain significance	548628	rs201433617	5:140953310-140953310	5:141573743-141573743
40	DIAPH1	NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)	SNV	Uncertain significance	572032	rs532205362	5:140953063-140953063	5:141573496-141573496
41	DIAPH1	NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)	SNV	Uncertain significance	575565	rs184081055	5:140966692-140966692	5:141587125-141587125
42	DIAPH1	NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)	SNV	Uncertain significance	575625	rs1003389476	5:140907256-140907256	5:141527689-141527689
43	DIAPH1	NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)	SNV	Uncertain significance	573683	rs200688040	5:140908487-140908487	5:141528920-141528920
44	DIAPH1	NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)	SNV	Uncertain significance	574584	rs200251893	5:140909178-140909178	5:141529611-141529611
45	DIAPH1	NM_005219.5(DIAPH1):c.1280+3A>G	SNV	Uncertain significance	583322	rs747583916	5:140957039-140957039	5:141577472-141577472
46	DIAPH1	NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val)	SNV	Uncertain significance	568520	rs766359994	5:140960411-140960411	5:141580844-141580844
47	DIAPH1	NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)	SNV	Uncertain significance	578439	rs747116749	5:140905693-140905693	5:141526126-141526126
48	DIAPH1	NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)	SNV	Uncertain significance	578663	rs200394036	5:140907238-140907238	5:141527671-141527671
49	DIAPH1	NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile)	SNV	Uncertain significance	655958		5:140896470-140896470	5:141516903-141516903
50	DIAPH1	NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr)	SNV	Uncertain significance	655416		5:140905980-140905980	5:141526413-141526413

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Expression for Seizures, Cortical Blindness, and Microcephaly Syndrome

Search GEO for disease gene expression data for Seizures, Cortical Blindness, and Microcephaly Syndrome.

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Pathways for Seizures, Cortical Blindness, and Microcephaly Syndrome

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GO Terms for Seizures, Cortical Blindness, and Microcephaly Syndrome

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Sources for Seizures, Cortical Blindness, and Microcephaly Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS)

Aliases & Classifications for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards integrated aliases for Seizures, Cortical Blindness, and Microcephaly Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seizures, Cortical Blindness, and Microcephaly Syndrome

Related Diseases for Seizures, Cortical Blindness, and Microcephaly Syndrome

Symptoms & Phenotypes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Human phenotypes related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Seizures, Cortical Blindness, and Microcephaly Syndrome

Drugs for Seizures, Cortical Blindness, and Microcephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genetic tests related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Anatomical Context for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards organs/tissues related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

Articles related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Genes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genes related to Seizures, Cortical Blindness, and Microcephaly Syndrome (1 elite genes):

Variations for Seizures, Cortical Blindness, and Microcephaly Syndrome

ClinVar genetic disease variations for Seizures, Cortical Blindness, and Microcephaly Syndrome:

Expression for Seizures, Cortical Blindness, and Microcephaly Syndrome

Pathways for Seizures, Cortical Blindness, and Microcephaly Syndrome

GO Terms for Seizures, Cortical Blindness, and Microcephaly Syndrome

Sources for Seizures, Cortical Blindness, and Microcephaly Syndrome