National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Galloway-Mowat syndrome


Other Names:
Galloway Mowat syndrome; Galloway syndrome; Microcephaly nephrosis syndrome; Galloway Mowat syndrome; Galloway syndrome; Microcephaly nephrosis syndrome; Nephrosis neuronal dysmigration syndrome; Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type; Microcephaly, hiatal hernia, and nephrotic syndrome See More
Categories:
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.[1][2] Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability.[2][3] Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible.[4] Affected children often do not survive beyond the first few years of life.[3] Treatment is aimed at the specific signs and symptoms present in each individual.[1]
Last updated: 5/23/2017

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.

Showing of 77 |
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 developmental delay 0001263
Hypoplasia of the ear cartilage
Underdeveloped ear cartilage
0100720
Microcephaly
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
Abnormally small skull
[ more ] 		0000252
Nephropathy 0000112
Nephrotic syndrome 0000100
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
30%-79% of people have these symptoms
EEG abnormality 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
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ] 		0004322
5%-29% of people have these symptoms
Abnormality of immune system physiology 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
Ataxia 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
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Muscular hypotonia
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
Dystonia 0001332
Intellectual disability
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
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cataract
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 corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplasia of the iris
Underdeveloped iris
0007676
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Joint contracture of the hand 0009473
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Microphthalmia
Abnormally small eyeball
0000568
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Narrow nasal ridge
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ] 		0000418
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oligohydramnios
Low levels of amniotic fluid
0001562
Opacification of the corneal stroma 0007759
Pes cavus
High-arched foot
0001761
Poor speech 0002465
Postnatal microcephaly 0005484
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] 		0000448
Ptosis
Drooping upper eyelid
0000508
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Slender finger
Narrow fingers
Slender fingers
thin fingers
[ more ] 		0001238
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Small nail
Small nails
0001792
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
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Last updated: 7/1/2020
Galloway-Mowat syndrome is inherited in an autosomal recessive manner.[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 5/23/2017
The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible.[4] In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 5/23/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Support 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.

Social Networking Websites

Organizations Providing General Support

These 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

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Galloway-Mowat syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is there genetic testing available for Galloway-Mowat syndrome? It has been present in my family (niece), and other family members wonder if they carry the gene. See answer


  1. Baple E. Galloway-Mowat Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/galloway-mowat-syndrome/.
  2. Galloway-Mowat Syndrome; GAMOS. Online Mendelian Inheritance in Man (OMIM). April 19, 2016; http://www.omim.org/entry/251300.
  3. Pezzella M., Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F, et. al. Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure. March, 2010; 19(2):132-135. http://www.seizure-journal.com/article/S1059-1311(09)00245-3/fulltext.
  4. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, et. al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. August, 2015; 138(Pt 8):2173-2190. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511861/.