Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMuscle Hypotonia (D009123)
..Starting node
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)

       Child Nodes:



 Sister Nodes: 
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCohen syndrome (C536438)
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandEmanuel syndrome (C535733)
..expandEthanolaminosis (C562651)
..expandFumaric aciduria (C538191)
..expandGerman Syndrome (C562543)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandOpitz-Kaveggia syndrome (C537923)
..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1282
Name:Birk-Barel Mental Retardation Dysmorphism Syndrome
Definition:
Alternative IDs:OMIM:612292
ParentIDs:MESH:D008607|MESH:D009123|MESH:D019465
TreeNumbers:C05.660.207/C567357 |C10.597.606.643/C567357 |C10.597.613.575/C567357 |C16.131.621.207/C567357 |C23.888.592.604.646/C567357 |C23.888.592.608.575/C567357 |F03.550.600/C567357
Synonyms:Birk-Barel Syndrome |Mental Retardation with Hypotonia and Facial Dysmorphism
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567357
MeSH: C567357
OMIM: 612292;

Genes: KCNK9;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001999Abnormal facial shape
3 HP:0011229Broad eyebrow
4 HP:0002015Dysphagia
5 HP:0008872Feeding difficulties in infancy
6 HP:0000218High palate
7 HP:0002553Highly arched eyebrow
8 HP:0001252Hypotonia
9 HP:0001249Intellectual disability
10 HP:0000341Narrow forehead
11 HP:0000960Sacral dimple
12 HP:0000322Short philtrum
13 HP:0011819Submucous cleft soft palate
14 HP:0000574Thick eyebrow
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001282534.1(KCNK9):c.706G>A (p.Gly236Arg)51305KCNK9Pathogenic121908332RCV000005007; RCV000203121; NMedGen:C2676770,OMIM:612292,ORPHA:166108; MedGen:CN2218098140630920140630920NM_001282534.1:c.706G>ANP_001269463.1:p.Gly236ArgNC_000008.10:g.140630920C>TOMIM Allelic Variant:605874.0001C2676770 612292 Birk Barel mental retardation dysmorphism syndrome; CN221809 not provided