DIAPHRAGMATIC HERNIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: DIH3
Number of Symptoms 1
OrphanetNr:
OMIM Id: 610187
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000776) Congenital diaphragmatic hernia 17568391 IBIS 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Temple et al. (1994) reported 2 unrelated girls with isolated unilateral congenital diaphragmatic hernia. One child had a left posterolateral diaphragmatic hernia and a balanced reciprocal translocation (8;13)(q22.3;q22) inherited from her unaffected mother. The second child had a ...
Molecular genetics OMIM In a deceased child with diaphragmatic development defects and severe primary pulmonary hypoplasia (see 265430), Ackerman et al. (2005) identified a de novo heterozygous mutation in the ZFPM2 gene (603693.0003). Postmortem analysis showed incomplete lung fissures bilaterally and ...