Natal teeth - intestinal pseudoobstruction - patent ductus

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 1654
OMIM Id: 243185
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000695) Natal tooth Very frequent [Orphanet] 42 / 7739
2
(HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
3
(HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
4
(HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
5
(HPO:0001643) Patent ductus arteriosus Very frequent [Orphanet] 228 / 7739
6
(HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
7
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: