Disease Information for Walker-Warburg syndrome (9q34.1)

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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

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External Links Related to Walker-Warburg syndrome (9q34.1)
Google
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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