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:
expandRubinstein-Taybi Syndrome (D012415)
..Starting node
..expandChromosome 16p13.3 Deletion Syndrome (C566433)

       Child Nodes:



 Sister Nodes: 
..expandChromosome 16p13.3 Deletion Syndrome (C566433)
..expandRubinstein Taybi like syndrome (C535877)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2216
Name:Chromosome 16p13.3 Deletion Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D012415
TreeNumbers:C05.116.099.370.797/C566433 |C05.660.207.850/C566433 |C10.597.606.643.700/C566433 |C16.131.077.804/C566433 |C16.131.260.790/C566433 |C16.131.621.207.850/C566433 |C16.320.180.790/C566433
Synonyms:RSTS, Severe |Rubinstein-Taybi Syndrome, Severe
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C566433
MeSH: C566433
OMIM: 610543;

Genes: AF8T;
Phenotypes
1 HP:0001452Autosomal dominant contiguous gene syndrome
2 HP:0001999Abnormal facial shape
3 HP:0009553Abnormality of the hairline
4 HP:0000077Abnormality of the kidney
5 HP:0010055Broad hallux
6 HP:0011304Broad thumb
7 HP:0004209Clinodactyly of the 5th finger
8 HP:0000444Convex nasal ridge
9 HP:0001522Death in infancy
10 HP:0000494Downslanted palpebral fissures
11 HP:0000329Facial hemangioma
12 HP:0002219Facial hypertrichosis
13 HP:0001508Failure to thrive
14 HP:0008872Feeding difficulties in infancy
15 HP:0001263Global developmental delay
16 HP:0000218High palate
17 HP:0004383Hypoplastic left heart
18 HP:0001252Hypotonia
19 HP:0001249Intellectual disability
20 HP:0009765Low hanging columella
21 HP:0000252Microcephaly
22 HP:0000347Micrognathia
23 HP:0000545Myopia
24 HP:0010815Nevus sebaceous
25 HP:0001513Obesity
26 HP:0001748Polysplenia
27 HP:0000448Prominent nose
28 HP:0002719Recurrent infections
29 HP:0002650Scoliosis
30 HP:0001250Seizure
31 HP:0002360Sleep disturbance
32 HP:0001442Somatic mosaicism
33 HP:0000486Strabismus
Disease Causing ClinVar Variants