Meckel syndrome, type 11

General Information (adopted from Orphanet):

Synonyms, Signs: MKS11
Number of Symptoms 5
OrphanetNr:
OMIM Id: 615397
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
2
(HPO:0002085) Occipital encephalocele 20 / 7739
3
(HPO:0010442) Polydactyly 69 / 7739
4
(HPO:0001562) Oligohydramnios 75 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

TMEM231;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shaheen et al. (2013) reported a consanguineous Arab family in which 2 pregnancies were lost because of Meckel syndrome, which was diagnosed prenatally in both cases; 1 was spontaneously aborted, whereas the other was terminated. The second affected ...
Molecular genetics OMIM In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11, Shaheen et al. (2013) identified a homozygous mutation in the TMEM231 gene (614949.0003). An unrelated Arab patient with the disorder carried a different homozygous mutation ...