Birk-Barel Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BIBAS MCID: BRK002 MIFTS: 41	Birk-Barel Syndrome (BIBAS) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Name: Birk-Barel Syndrome ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ⁶ ¹⁵

Birk-Barel Mental Retardation Dysmorphism Syndrome ⁵⁶ ¹² ⁷³ ¹³ ⁴³ ³⁹

Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome ⁵² ⁵⁸

Mental Retardation with Hypotonia and Facial Dysmorphism ⁵⁶ ⁷³

Intellectual Disability, Birk-Barel Type ⁵⁸

Kcnk9 Imprinting Syndrome ⁵²

Bibas ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

³¹

birk-barel syndrome:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050675

OMIM ⁵⁶ 612292

MeSH ⁴³ C567357 D008607

ICD10 via Orphanet ³³ Q87.8

Orphanet ⁵⁸ ORPHA166108

MedGen ⁴¹ C2676770

Sources

Summaries for Birk-Barel Syndrome

NIH Rare Diseases : ⁵² Birk-Barel syndrome is an inherited condition characterized by intellectual disability , hypotonia , hyperactivity , and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8 . This condition demonstrates dominant inheritance with paternal imprinting , which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).

MalaCards based summary : Birk-Barel Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to kcnk9 imprinting syndrome and hypotonia. An important gene associated with Birk-Barel Syndrome is KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are global developmental delay and thick vermilion border

Disease Ontology : ¹² A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has material basis in heterozygous mutation in the KCNK9 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : ⁷³ Birk-Barel mental retardation dysmorphism syndrome: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism.

Wikipedia : ⁷⁴ Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms... more...

More information from OMIM: 612292

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Related Diseases for Birk-Barel Syndrome

Diseases related to Birk-Barel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	kcnk9 imprinting syndrome	12.1
2	hypotonia	10.6
3	motor peripheral neuropathy	10.5
4	cleft palate, isolated	10.3
5	alacrima, achalasia, and mental retardation syndrome	10.3
6	dysphagia	10.3
7	scoliosis	10.2
8	lacrimal duct obstruction	10.2
9	hypoglycemia	10.2
10	adrenal cortical adenocarcinoma	10.0	KCNK9 KCNK13
11	integrative agnosia	10.0	KCNK9 KCNK3
12	autosomal recessive non-syndromic intellectual disability	9.3	TRAPPC9 PEG13 KCNK9
13	migraine with or without aura 1	9.2	KCNK4 KCNK2 KCNK18 KCNK10

Graphical network of the top 20 diseases related to Birk-Barel Syndrome:

Sources

Symptoms & Phenotypes for Birk-Barel Syndrome

Human phenotypes related to Birk-Barel Syndrome:

⁵⁸ ³¹ (show all 41)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
2	thick vermilion border ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012471
3	neonatal hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001319
4	dysphagia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002015
5	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
6	high, narrow palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002705
7	dolichocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000268
8	open mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000194
9	highly arched eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002553
10	protruding ear ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000411
11	short philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000322
12	sacral dimple ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000960
13	dysphonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001618
14	narrow nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000446
15	tented upper lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010804
16	broad philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000289
17	hyperactivity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000752
18	broad nasal tip ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000455
19	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
20	narrow forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000341
21	hypomimic face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000338
22	fatiguable weakness of proximal limb muscles ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030200
23	nasogastric tube feeding ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0040288
24	incisor macrodontia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011081
25	areflexia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001284
26	congenital finger flexion contractures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005879
27	motor axonal neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007002
28	contractures involving the joints of the feet ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008366
29	tongue fasciculations ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001308
30	spinal muscular atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007269
31	limited elbow flexion/extension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005060
32	intellectual disability ³¹			HP:0001249
33	muscular hypotonia ³¹			HP:0001252
34	abnormal facial shape ³¹			HP:0001999
35	thick eyebrow ³¹			HP:0000574
36	feeding difficulties in infancy ³¹			HP:0008872
37	feeding difficulties ⁵⁸		Frequent (79-30%)
38	high palate ³¹			HP:0000218
39	submucous cleft soft palate ³¹			HP:0011819
40	broad eyebrow ³¹			HP:0011229
41	fatigable weakness of skeletal muscles ⁵⁸		Frequent (79-30%)

Clinical features from OMIM:

612292

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.28	KCNK10 KCNK13 KCNK18 KCNK2 KCNK3 KCNK4

Sources

Drugs & Therapeutics for Birk-Barel Syndrome

Search Clinical Trials , NIH Clinical Center for Birk-Barel Syndrome

Cochrane evidence based reviews: birk-barel mental retardation dysmorphism syndrome

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Genetic Tests for Birk-Barel Syndrome

Genetic tests related to Birk-Barel Syndrome:

#	Genetic test	Affiliating Genes
1	Birk-Barel Syndrome ²⁹	KCNK9

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Anatomical Context for Birk-Barel Syndrome

MalaCards organs/tissues related to Birk-Barel Syndrome:

⁴⁰

Skeletal Muscle, Tongue

Sources

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

#	Title	Authors	PMID	Year
1	Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. ⁵⁶ ⁶ ⁶¹	Barel O...Birk OS	18678320	2008
2	KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. ⁶ ⁵⁶	Graham JM...Shalev SA	27151206	2016
3	KCNK9 Imprinting Syndrome ⁶	Zadeh N...Graham JM	28333430	2017
4	"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. ⁶¹	Hamilton MJ...Suri M	32560786	2020
5	Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. ⁶¹	Sediva M...Haberlova J	30690205	2020
6	Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. ⁶¹	Wright PD...Jerman J	28882594	2017
7	Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. ⁶¹	Sanchez Delgado M...Monk D	24980697	2014
8	Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome. ⁶¹	Veale EL...Mathie A	24342771	2014

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Genes for Birk-Barel Syndrome

Genes related to Birk-Barel Syndrome (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNK9	Potassium Two Pore Domain Channel Subfamily K Member 9	Protein Coding	1675.4	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	18678320 27151206 28333430
2	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	7.06	DISEASES inferred ¹⁵
3	KCNK18	Potassium Two Pore Domain Channel Subfamily K Member 18	Protein Coding	7.03	DISEASES inferred ¹⁵
4	KCNK10	Potassium Two Pore Domain Channel Subfamily K Member 10	Protein Coding	6.71	DISEASES inferred ¹⁵
5	KCNK13	Potassium Two Pore Domain Channel Subfamily K Member 13	Protein Coding	6.5	DISEASES inferred ¹⁵
6	KCNK1	Potassium Two Pore Domain Channel Subfamily K Member 1	Protein Coding	6.44	DISEASES inferred ¹⁵
7	KCNK16	Potassium Two Pore Domain Channel Subfamily K Member 16	Protein Coding	6.33	DISEASES inferred ¹⁵
8	TRAPPC9	Trafficking Protein Particle Complex 9	Protein Coding	6.32	DISEASES inferred ¹⁵
9	PEG13	Paternally Expressed 13	RNA Gene	6.31	DISEASES inferred ¹⁵
10	KCNK4	Potassium Two Pore Domain Channel Subfamily K Member 4	Protein Coding	6.27	DISEASES inferred ¹⁵
11	PPP1R9A	Protein Phosphatase 1 Regulatory Subunit 9A	Protein Coding	5.95	DISEASES inferred ¹⁵
12	KCNK2	Potassium Two Pore Domain Channel Subfamily K Member 2	Protein Coding	5.83	DISEASES inferred ¹⁵

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Variations for Birk-Barel Syndrome

ClinVar genetic disease variations for Birk-Barel Syndrome:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCNK9	NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)	SNV	Pathogenic	397636	rs121908332	8:140630920-140630920	8:139618677-139618677
2	KCNK9	NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)	SNV	Pathogenic	4741	rs121908332	8:140630920-140630920	8:139618677-139618677
3	KCNK9	NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	SNV	Conflicting interpretations of pathogenicity	372887	rs867543866	8:140631234-140631234	8:139618991-139618991
4	KCNK9	NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val)	SNV	Uncertain significance	452563	rs1166889219	8:140715211-140715211	8:139702968-139702968
5	KCNK9	NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser)	SNV	Uncertain significance	634574	rs1563758595	8:140715013-140715013	8:139702770-139702770

UniProtKB/Swiss-Prot genetic disease variations for Birk-Barel Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	KCNK9	p.Gly236Arg	VAR_054373	rs121908332

Sources

Expression for Birk-Barel Syndrome

Search GEO for disease gene expression data for Birk-Barel Syndrome.

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Pathways for Birk-Barel Syndrome

Pathways related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.31	PPP1R9A KCNK9 KCNK4 KCNK3 KCNK2 KCNK16
2	Sweet Taste Signaling ⁶³ Show member pathways Bitter Taste Signaling ⁶³ Cellular Effects of Sildenafil ⁶³ Melatonin Signaling ⁶³ Sperm Motility ⁶³	12.86	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
3	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.83	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
4	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.54	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.45	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
6	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.65	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
7	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	11.45	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.18	KCNK3 KCNK1

Sources

GO Terms for Birk-Barel Syndrome

Cellular components related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.91	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2	plasma membrane	GO:0005886	9.81	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
3	integral component of plasma membrane	GO:0005887	9.28	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
4	potassium channel complex	GO:0034705	8.96	KCNK4 KCNK1

Biological processes related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.91	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2	potassium ion transmembrane transport	GO:0071805	9.81	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
3	regulation of ion transmembrane transport	GO:0034765	9.62	KCNK4 KCNK16 KCNK13 KCNK10
4	stabilization of membrane potential	GO:0030322	9.61	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5	memory	GO:0007613	9.54	KCNK4 KCNK2 KCNK10
6	cardiac conduction	GO:0061337	9.43	KCNK3 KCNK1
7	cochlea development	GO:0090102	9.4	KCNK3 KCNK2
8	potassium ion transport	GO:0006813	9.28	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16

Molecular functions related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion leak channel activity	GO:0022841	9.61	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2	voltage-gated ion channel activity	GO:0005244	9.46	KCNK4 KCNK16 KCNK13 KCNK10
3	voltage-gated potassium channel activity	GO:0005249	9.43	KCNK9 KCNK2 KCNK1
4	outward rectifier potassium channel activity	GO:0015271	9.32	KCNK2 KCNK18
5	potassium channel activity	GO:0005267	9.28	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16

Sources

Sources for Birk-Barel Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

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

Birk-Barel Syndrome (BIBAS)

Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Birk-Barel Syndrome

Related Diseases for Birk-Barel Syndrome

Diseases related to Birk-Barel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Birk-Barel Syndrome:

Symptoms & Phenotypes for Birk-Barel Syndrome

Human phenotypes related to Birk-Barel Syndrome:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

Drugs & Therapeutics for Birk-Barel Syndrome

Cochrane evidence based reviews: birk-barel mental retardation dysmorphism syndrome

Genetic Tests for Birk-Barel Syndrome

Genetic tests related to Birk-Barel Syndrome:

Anatomical Context for Birk-Barel Syndrome

MalaCards organs/tissues related to Birk-Barel Syndrome:

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

Genes for Birk-Barel Syndrome

Genes related to Birk-Barel Syndrome (1 elite genes):

Variations for Birk-Barel Syndrome

ClinVar genetic disease variations for Birk-Barel Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Birk-Barel Syndrome:

Expression for Birk-Barel Syndrome

Pathways for Birk-Barel Syndrome

Pathways related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

GO Terms for Birk-Barel Syndrome

Cellular components related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

Sources for Birk-Barel Syndrome