Mowat-Wilson syndrome due to a point mutation

General Information (adopted from Orphanet):

Synonyms, Signs: Hirschsprung disease and intellectual deficit due to a point mutation
Number of Symptoms 5
OrphanetNr: 261552
OMIM Id:
ICD-10: Q43.1
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: Mowat-Wilson syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Patient 1 (R695X point mutation in gene ZFHX1B, 5-year-old Japanese girl) showed a distinct facial phenotype, mental retardation, epilepsy, constipation and congenital heart disease, but no apparent HSCR. Patient 2 (Q433X point mutation in gene ZFHX1B, 8-year-old Japanese girl) showed a distinct facial phenotype, mental retardation, epileptic seizures and HSCR. Involved genes: ZEB2 (ZFHX1B) (PMID:17932455);

Symptom Information: Sort by abundance 

1
 (HPO:0030680) Abnormality of cardiovascular system morphology 17932455 IBIS 355 / 7739
2
 (HPO:0001249) Intellectual disability hallmark 17932455 IBIS 1089 / 7739
3
 (HPO:0001250) Seizures 17932455 IBIS 1245 / 7739
4
 (HPO:0002251) Aganglionic megacolon 17932455 IBIS 78 / 7739
5
 (HPO:0002019) Constipation 17932455 IBIS 194 / 7739

Associated genes:

ZEB2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: