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Disease Profile
Galloway-Mowat 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.
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Age of onset
Infancy
ICD-10
Q04.3
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)
Galloway Mowat syndrome; Galloway syndrome; Microcephaly nephrosis syndrome;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases
Summary
Galloway-Mowat
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 | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Global |
0001263 | |
Hypoplasia of the ear cartilage |
Underdeveloped ear cartilage
|
0100720 |
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
Abnormally small skull
[ more ] |
0000252 | |
Nephropathy | 0000112 | |
Nephrotic |
0000100 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
30%-79% of people have these symptoms | ||
0002353 | ||
Hiatus hernia |
Stomach hernia
|
0002036 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Macrotia |
Large ears
|
0000400 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
0001250 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Abnormality of |
0010978 | |
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Abnormality of the intervertebral disk | 0005108 | |
Adducted thumb |
Inward turned thumb
|
0001181 |
Aqueductal stenosis | 0002410 | |
0001251 | ||
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Dandy-Walker malformation | 0001305 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypertonia | 0001276 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Spastic tetraplegia | 0002510 | |
1%-4% of people have these symptoms | ||
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
0001332 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Optic atrophy | 0000648 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Diffuse mesangial sclerosis | 0001967 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flat occiput | 0005469 | |
Focal segmental glomerulosclerosis | 0000097 | |
Hand clenching |
Clenched hands
|
0001188 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypoalbuminemia |
Low blood albumin
|
0003073 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ] |
0002365 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypoplasia of the iris |
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Diagnosis The Genetic Testing Registry (GTR) provides information about the labs that offer clinical
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 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
Rare Hematology News |