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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
- Vascular-Arteriosclerosis
- Biochemical
- Congenital-developmental
- Deficiency
- Degenrative-Necrosis
- Electromagnetic-Physics
- Eponymic
- Functional-Physiologic
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- Trauma
- Use-age-Atrophic
- Endocrine-Vegetative
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Major Organs-Systems ▼
- Systemic
- Pediatric
- Nervous & Sensory System (Neurology)
- Cardiovascular System
- Respiratory (Pulmonary) System
- Gastro-Intestinal (Digestive) System
- Urinary System
- Dermatologic System
- Endocrine System
- Immune System
- Musculoskeletal System
- Genital Reproductive System
- Hematopoietic System (Hematology)
- Lymphatic System
- Tissue/Cells/Organelles
Disease Information for Walker-Warburg syndrome (9q34.1)
- Clinical Manifestations
- Signs & Symptoms
- Congenital facial deformities
- Genital Hypoplasia/Male
- Penis, small (Micropenis)
- Delay Sitting Unsupported Infant
- Hypotonia
- Muscle weakness
- Cerebellar movement disorder/signs
- Development Motor Skills (Milestones) Delayed
- Infant Seizures
- Seizures
- Slow Motor Development
- Clinical Presentation & Variations
- Early Childhood/Infancy Muscular Dystrophy
- Disease Progression
- Course/Death by age 3 to 4 usually
- Course/Progressive
- Onset/Infancy 3-4 Months
- Demographics & Risk Factors
- Sex & Age Groups
- Population/Infant
- Population/Infant One Month old
- Population/Neonate-newborn
- Laboratory Tests
- Abnormal Lab Findings - Increased
- CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
- Diagnostic Test Results
- Pathology
- PATH/Occipital encephalocele/fetus
- CT Scan
- CT Scan/Head Widened sulci
- MRI/Brain Slit like Brain Ventricles
- MRI/Head Scan Abnormal
- Ultrasound
- Ultrasound/Fetus/Gravid uterus abnormal
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Brain stem lesion
- Cleft palate/deformity
- Coloboma
- Congenital cataracts
- Congenital glaucoma
- Congenital hydronephrosis
- Corpus callosum defect/agenesis
- Cryptorchidism
- Dandy-Walker syndrome
- Eye Anomalies
- Fetal CNS disorder
- Hydrocephalus
- Meningoencephalocele
- Microcornea
- Microphthalmos
- Multiple Congenital Anomalies
- Muscular dystrophy
- Neonatal Hypotonia/Floppy Baby Syndrome
- Perineal fistula
- Pes cavus/High Arched Foot
- Retinal Degeneration/Dystrophy
- Retinal Dysplasia
- Talipes varus deformity
- Walker Warburg Syndrome
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Gene locus 9q31
- Pathophysiology/Gene locus 9q34.1
- Pathophysiology/Gene locus Chromosome 9
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Mutation Fukutin Protein Genes
- Pathophysiology/Merosin Deficient Muscle
- Pathophysiology/Abnormal Glycosylation Alpha Dystroglycans
- Pathophysiology/Mutation Protein O-Mannosytransferase
- Pathophysiology/Maternal Chromosome mutation
- Process
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Eponymic (category)
- PROCESS/Eponymic/Esoteric/Not yet integrated into database
- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditary Multiple anomalies syndrome [EX]
- PROCESS/INCIDENCE/Esoteric disease (example)
- PROCESS/INCIDENCE/Rare disease (ex)
- PROCESS/Muscular dystrophy disorder (ex)
- PROCESS/Congenital CNS disorder (ex)
- Synonyms
- Synonym
- Walker Warburg syndrome (9q34 1), Lissencephaly syndrome, Synonym/ HARD Syndrome, Synonym/Cerebroocular Dysplasia-Muscular Dystrophy, Synonym/Chemke Syndrome, Synonym/COD-MD Syndrome, Synonym/Hydrocephalus Agyria Retinal Dysplasia, Synonym/Krause-Reese Syndrome, Synonym/Pagon Syndrome, Synonym/Warburg Syndrome, Synonym/WWS
- Treatment
- Other Treatments
- TX/Supportive/Symptomatic treatment
- Definition
-
under construction gene locus 9q34.1 and 9q31
(Edit)
- External Links Related to Walker-Warburg syndrome (9q34.1)
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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