Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Abnormalities, Multiple (D000015)
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Growth Disorders (D006130)
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Intellectual Disability (D008607)
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Microcephaly (D008831)
..Starting node
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Chromosome 15q26-Qter Deletion Syndrome (C567232)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAchalasia microcephaly (C536010)
..expandAgammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAmish lethal microcephaly (C538247)
..expandAnonychia, Total, with Microcephaly (C564606)
..expandAphalangia syndactyly microcephaly (C537787)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAutosomal Recessive Primary Microcephaly (C579935)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandBaraitser Brett Piesowicz syndrome (C537905)
..expandBattaglia Neri syndrome (C537662)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Type A2, With Microcephaly (C565894)
..expandBranchial arch syndrome X-linked (C537102)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCAMFAK syndrome (C537965)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandChromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..expandChromosome 15q26-Qter Deletion Syndrome (C567232)
..expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCK SYNDROME (OMIM:300831)
..expandCohen syndrome (C536438)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandDubowitz syndrome (C535718)
..expandEllis Yale Winter syndrome (C536205)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandExtrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..expandFilippi syndrome (C538152)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGalloway Mowat syndrome (C537548)
..expandGOMBO syndrome (C537284)
..expandGrowth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..expandGrowth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..expandHadziselimovic Syndrome (C567850)
..expandHalal syndrome (C535622)
..expandHersh Podruch Weisskopk syndrome (C538114)
..expandHoyeraal Hreidarsson syndrome (C536068)
..expandHypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJorgenson Lenz syndrome (C536292)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandLambotte syndrome (C537549)
..expandLissencephaly 3 (C566908)
..expandLowry Wood syndrome (C537038)
..expandLymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..expandMacDermot Winter syndrome (C537714)
..expandMarfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..expandMEHMO syndrome (C537451)
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMicrocephaly albinism digital anomalies syndrome (C537322)
..expandMicrocephaly autosomal dominant (C537323)
..expandMicrocephaly cervical spine fusion anomalies (C537325)
..expandMicrocephaly deafness syndrome (C537326)
..expandMicrocephaly microphthalmos blindness (C537541)
..expandMicrocephaly nonsyndromal (C537542)
..expandMicrocephaly pontocerebellar hypoplasia dyskinesia (C537543)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMicrocephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
..expandMicrocephaly with Simplified Gyral Pattern (C566332)
..expandMicrocephaly with spastic quadriplegia (C537546)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrocephaly, Macrotia, And Mental Retardation (C566525)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMicrocephaly, Primary Autosomal Recessive, 1 (C565384)
..expandMicrocephaly, Primary Autosomal Recessive, 2 (C565794)
..expandMicrocephaly, Primary Autosomal Recessive, 3 (C565746)
..expandMicrocephaly, Primary Autosomal Recessive, 4 (C565792)
..expandMicrocephaly, Primary Autosomal Recessive, 5 (C563871)
..expandMicrocephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..expandMicrocephaly, Primary Autosomal Recessive, 6 (C564247)
..expandMicrocephaly, Primary Autosomal Recessive, 7 (C567198)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMicrocephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..expandMicrocephaly-Micromelia Syndrome (C565382)
..expandMicrohydranencephaly (C537555)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMilner Khallouf Gibson syndrome (C537473)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMowat-Wilson syndrome (C536990)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandNeu Laxova syndrome (C536405)
..expandNijmegen Breakage Syndrome-Like Disorder (C567767)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandOculopalatocerebral Syndrome (C564935)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandPaine syndrome (C538101)
..expandPartington Anderson syndrome (C536299)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..expandPorencephaly (D065708) Child1
..expandRaine syndrome (C535282)
..expandRAJAB SYNDROME (OMIM:613658)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSay Barber Miller syndrome (C536618)
..expandSay syndrome (C536621)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSeckel syndrome 1 (C537533)
..expandSeckel syndrome 2 (C537534)
..expandSeckel Syndrome 3 (C563881)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSeemanova Lesny syndrome (C537536)
..expandSevere Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..expandSilengo Lerone Pelizza syndrome (C537336)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandSpinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandTeebi Kaurah syndrome (C536948)
..expandTrichodental syndrome (C536551)
..expandTsukahara Syndrome (C566376)
..expandWarburg Sjo Fledelius syndrome (C536681)
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWinship Viljoen Leary syndrome (C536711)
..expandZerres Rietschel Majewski syndrome (C536724)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2210
Name:Chromosome 15q26-Qter Deletion Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D006130|MESH:D008607|MESH:D008831
TreeNumbers:C05.660.207.620/C567232 |C10.500.507.400.500/C567232 |C10.597.606.643/C567232 |C16.131.077/C567232 |C16.131.621.207.620/C567232 |C16.131.666.507.400.500/C567232 |C23.550.393/C567232 |C23.888.592.604.646/C567232 |F03.550.600/C567232
Synonyms:Drayer Syndrome
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C567232
MeSH: C567232
OMIM: 612626;

Genes: AF8T;
Phenotypes
1 HP:0003577Congenital onset
2 HP:0001671Abnormal cardiac septum morphology
3 HP:0000581Blepharophimosis
4 HP:0001156Brachydactyly
5 HP:0000028Cryptorchidism
6 HP:0001508Failure to thrive
7 HP:0001263Global developmental delay
8 HP:0000047Hypospadias
9 HP:0001249Intellectual disability
10 HP:0001511Intrauterine growth retardation
11 HP:0000369Low-set ears
12 HP:0000252Microcephaly
13 HP:0000347Micrognathia
14 HP:0000054Micropenis
15 HP:0003812Phenotypic variability
16 HP:0005819Short middle phalanx of finger
17 HP:0004322Short stature
18 HP:0001518Small for gestational age
19 HP:0003745Sporadic
20 HP:0000486Strabismus
21 HP:0001762Talipes equinovarus
22 HP:0000325Triangular face
23 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants