Meckel syndrome, type 12

General Information (adopted from Orphanet):

Synonyms, Signs: MKS12
Number of Symptoms 17
OrphanetNr:
OMIM Id: 616258
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:0000089) Renal hypoplasia 78 / 7739
2
 (HPO:0000148) Vaginal atresia rare [HPO:skoehler] 16 / 7739
3
 (HPO:0000104) Renal agenesis 68 / 7739
4
 (HPO:0000431) Wide nasal bridge rare [HPO:skoehler] 290 / 7739
5
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0000193) Bifid uvula rare [HPO:skoehler] 66 / 7739
8
 (HPO:0000340) Sloping forehead 86 / 7739
9
 (HPO:0000463) Anteverted nares rare [HPO:skoehler] 305 / 7739
10
 (HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
11
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
12
 (HPO:0001838) Rocker bottom foot 85 / 7739
13
 (HPO:0001562) Oligohydramnios 75 / 7739
14
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
15
 (HPO:0006872) Cerebral hypoplasia 7 / 7739
16
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
17
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

KIF14;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: