Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandChromosome Deletion (D002872)
Parent Node:
expandChromosome Disorders (D025063)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandSeizures (D012640)
..Starting node
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2209
Name:Chromosome 15q13.3 Microdeletion Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002872|MESH:D008607|MESH:D012640|MESH:D025063
TreeNumbers:C10.228.140.490.631/C567439 |C10.597.606.643/C567439 |C10.597.742/C567439 |C16.131.260/C567439 |C16.320.180/C567439 |C23.550.210.050.500.500/C567439 |C23.888.592.604.646/C567439 |C23.888.592.742/C567439 |F03.550.600/C567439
Synonyms:15q13.3 Microdeletion |15q13.3 Microdeletion Syndrome |Chromosome 15q13.3 Deletion Syndrome |Microdeletion 15q13.3 Syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C567439
MeSH: C567439
OMIM: 612001;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001999Abnormal facial shapeHP:0040282
3 HP:0030680Abnormality of cardiovascular system morphologyHP:0040284
4 HP:0008050Abnormality of the palpebral fissuresHP:0040284
5 HP:0000377Abnormality of the pinnaHP:0040284
6 HP:0000708Behavioral abnormalityHP:0040284
7 HP:0001156BrachydactylyHP:0040284
8 HP:0004209Clinodactyly of the 5th fingerHP:0040284
9 HP:0000316HypertelorismHP:0040284
10 HP:0001252HypotoniaHP:0040284
11 HP:0003829Incomplete penetranceHP:0040284
12 HP:0001256Intellectual disability, mildHP:0040284
13 HP:0002342Intellectual disability, moderateHP:0040284
14 HP:0010864Intellectual disability, severeHP:0040284
15 HP:0003812Phenotypic variability
16 HP:0001250SeizureHP:0040284
17 HP:0001328Specific learning disabilityHP:0040284
18 HP:0000486StrabismusHP:0040284
19 HP:0000664SynophrysHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
15q13.3-1-Pathogenic-1RCV000020064; NGene:100188869,MedGen:C2677613,OMIM:612001,ORPHA:199318153113710432445408--dbVar:nssv7487183,dbVar:nsv1197570C2677613 612001 15q13.3 microdeletion syndrome