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:
expandEye Abnormalities (D005124)
Parent Node:
expandHearing Loss (D034381)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandHypertelorism (D006972)
..Starting node
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)

       Child Nodes:



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBagatelle Cassidy syndrome (C537796)
..expandBarber Say syndrome (C537908)
..expandBrachycephalofrontonasal dysplasia (C537085)
..expandCamptodactyly Syndrome, Guadalajara, Type II (C567138)
..expandCamptodactyly Syndrome, Guadalajara, Type III (C567455)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFRONTONASAL DYSPLASIA 1 (OMIM:136760)
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
..expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
..expandGastrocutaneous syndrome (C535651)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..expandHypertelorism and tetralogy of Fallot (C538386)
..expandHypertelorism with esophageal abnormality and hypospadias (C538387)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandHypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..expandKrauss Herman Holmes syndrome (C537618)
..expandMarles Greenberg Persaud syndrome (C536022)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandRoberts Syndrome (C535687)
..expandSantos Mateus Leal syndrome (C537235)
..expandSchwartz-Lelek syndrome (C537519)
..expandSeaver Cassidy syndrome (C537529)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2325
Name:Chromosome 6pter-P24 Deletion Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002872|MESH:D005124|MESH:D006330|MESH:D006972|MESH:D034381
TreeNumbers:C05.116.099.370.231.480/C567239 |C05.660.207.231.480/C567239 |C09.218.458.341/C567239 |C10.597.751.418.341/C567239 |C11.250/C567239 |C14.240.400/C567239 |C14.280.400/C567239 |C16.131.240.400/C567239 |C16.131.384/C567239 |C16.131.621.207.231.480/C567239 |C23.550.21
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C567239
MeSH: C567239
OMIM: 612582;

Genes: AF8T;
Phenotypes
1 HP:0006482Abnormality of dental morphology
2 HP:0001492Axenfeld anomaly
3 HP:0000248Brachycephaly
4 HP:0000337Broad forehead
5 HP:0000204Cleft upper lip
6 HP:0001305Dandy-Walker malformation
7 HP:0000750Delayed speech and language development
8 HP:0000678Dental crowding
9 HP:0005280Depressed nasal bridge
10 HP:0000494Downslanted palpebral fissures
11 HP:0000286Epicanthus
12 HP:0000577Exotropia
13 HP:0002007Frontal bossing
14 HP:0001290Generalized hypotonia
15 HP:0001263Global developmental delay
16 HP:0000218High palate
17 HP:0001385Hip dysplasia
18 HP:0000540Hypermetropia
19 HP:0000316Hypertelorism
20 HP:0001252Hypotonia
21 HP:0001249Intellectual disability
22 HP:0000369Low-set ears
23 HP:0000272Malar flattening
24 HP:0011800Midface retrusion
25 HP:0001270Motor delay
26 HP:0007759Opacification of the corneal stroma
27 HP:0001643Patent ductus arteriosus
28 HP:0001655Patent foramen ovale
29 HP:0003812Phenotypic variability
30 HP:0000627Posterior embryotoxon
31 HP:0000358Posteriorly rotated ears
32 HP:0001838Rocker bottom foot
33 HP:0001250Seizure
34 HP:0000407Sensorineural hearing impairment
35 HP:0000470Short neck
36 HP:0001328Specific learning disability
37 HP:0003745Sporadic
38 HP:0010804Tented upper lip vermilion
39 HP:0001636Tetralogy of Fallot
Disease Causing ClinVar Variants