Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:6596
Name:Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D006344|MESH:D008209|MESH:D019066
TreeNumbers:C14.240.400.560.375/C567398 |C14.280.400.560.375/C567398 |C15.604.496/C567398 |C16.131.077/C567398 |C16.131.240.400.560.375/C567398 |C23.550.291.812/C567398
Synonyms:Irons-Bianchi Syndrome |Lymphedema, Atrial Septal Defect, And Characteristic Facies
Slim Mappings:Cardiovascular disease|Congenital abnormality|Lymphatic disease|Pathology (process)
Reference: MedGen: C567398
MeSH: C567398
OMIM: 601927;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001597Abnormality of the nail
3 HP:0004749Atrial flutter
4 HP:0001631Atrial septal defect
5 HP:0000455Broad nasal tip
6 HP:0000750Delayed speech and language development
7 HP:0005280Depressed nasal bridge
8 HP:0000286Epicanthus
9 HP:0000348High forehead
10 HP:0000034Hydrocele testis
11 HP:0001004Lymphedema
12 HP:0001562Oligohydramnios
13 HP:0001539Omphalocele
14 HP:0002623Overriding aorta
15 HP:0001643Patent ductus arteriosus
16 HP:0011220Prominent forehead
17 HP:0000311Round face
18 HP:0005099Severe hydrops fetalis
19 HP:0000506Telecanthus
20 HP:0000219Thin upper lip vermilion
21 HP:0000582Upslanted palpebral fissure
22 HP:0010775Vascular ring
23 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants