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Disease Profile
Mowat-Wilson syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
Q43.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease; Hirschsprung disease intellectual disability syndrome
Categories
Congenital and Genetic Diseases
Summary
Mowat-Wilson
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 | |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 | |
External ear malformation | 0008572 | ||
Frontal bossing | 0002007 | ||
High forehead | 0000348 | ||
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] |
0009748 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Uplifted earlobe |
Lobe, uplifted
Upturned earlobe
[ more ] |
0009909 | |
30%-79% of people have these symptoms | |||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 | |
Aplasia/Hypoplasia of the |
0007370 | ||
Broad columella | 0010761 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Hypospadias | 0000047 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 | |
0001250 | |||
Decreased body height
Small stature
[ more ] |
0004322 | ||
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 | |
5%-29% of people have these symptoms | |||
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 | |
Bifid scrotum |
Cleft of scrotum
|
0000048 | |
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 | |
Cleft roof of mouth
|
0000175 | ||
Cleft upper lip |
Harelip
|
0000204 | |
Constipation | 0002019 | ||
Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 | |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 | |
Finger |
0006101 | ||
Hallux valgus |
Bunion
|
0001822 | |
Hydronephrosis | 0000126 | ||
Iris coloboma |
Cat eye
|
0000612 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Patent ductus arteriosus | 0001643 | ||
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Supernumerary nipple |
Accessory nipple
|
0002558 | |
Tetralogy of Fallot | 0001636 | ||
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | |
Ventriculomegaly | 0002119 | ||
Vesicoureteral reflux | 0000076 | ||
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | |
1%-4% of people have these symptoms | |||
Abnormal eye morphology |
Abnormal eye structure
Abnormally shaped eye
[ more ] |
0012372 | |
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 | |
Abnormal morphology of the hippocampus | 0025100 | ||
Abnormality of the kidney |
Abnormal kidney
|
0000077 | |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 | |
Agenesis of corpus callosum | 0001274 | ||
Aplasia/Hypoplasia of the cerebral white matter |
Absent/small cerebral white matter
Cause Mowat-Wilson
Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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