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31801 to 31900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Glycine Decreased to Normal
PHGDH Activity in Fibroblasts Decreased
Plasma Serine Decreased - Fasting
Hypsarrhythmia or Severe Multifocal Epileptic Abnormalities with Poor Background Activity
Caused by a Defect in Bile Acid Transport
Bridging Fibrosis Shown on Biopsy
Biopsy Shows Giant Cell Transformation
Intracanalicular Cholestasis (Biopsy)
Caused by Mutations in the Sequestosome 1 Gene
Allelic to Autosomal Recessive Deafness Type 23
Beta-Cell Dysfunction of Varying Degrees
Variable Insulin Resistance
HLA Class II Alleles Specify Ketosis-Prone Diabetes Subgroup
Susceptibility Conferred by Mutation in the Paired Box Gene 4
Autoimmunity to Pancreatic Beta Cells
Allelic to Spastic Paraplegia Type 13
Exacerbation during Febrile Episodes
Usually Fatal in First 2 Decades
Onset between Birth and 3 Months of Age
Lactate May Be Increased during Encephalopathic Exacerbations
Intermittent Increase of Urinary Ethylmalonic Acid
Hypomyelinating Leukodystrophy
Abnormal Myelination (MRI)
No Head Control
Gamma-GGT Increased
End Stage Liver Disease before Adulthood
Portal Fibrosis (Biopsy)
Severe Hypovolemia
Mutation in the Eyes Absent Protein 1 Gene
Hypoplasia of the Cochlea
Unconnected or Fused Stapes and Incus
Hyperkeratotic Plaques
Bilateral Parietal Foramina
Craniosynostosis - Coronal Lamboid Sagittal
Large Anterior and Posterior Fontanels
Pruritus (Major Feature)
Endocrine Abnormalities Confined to Kidney
Caused by Mutation in the Syntaxin 16 Gene (STX16)
Mutation in the GNAS-AS1 Gene
Symmetric Spastic Diplegia
Patients of Brazilian Origin Have a Pure Cerebellar Atrophy
Pentanucleotide Repeat Expansion in the ATXN10 Gene
Platelet Glycoprotein Ib Decreased
Absence of Sialyl-Lewis X from Neutrophil Membranes
Abnormal Platelets with Giant Morphology
Recurrent Hemorrhagic Events
Transferrin Isoelectric Profile Normal
See Also Dominant DEB - an Allelic Disorder with a Similar Phenotype
Blistering Frequency May Decrease with Age
Blistering and Erosions on Extensor Surfaces or Over Bony Prominences
Blisters Are Precipitated by Minor Skin Trauma
Mutation in the Collagen Type 7 Alpha 1 Gene
Decreased Staining for Collagen VII
Hypotrophic Anchoring Fibrils
Number of Anchoring Fibrils at Dermal-Epidermal Junction Decreased
Tissue Separation below Lamina densa of Basal Membrane
Albopapuloid Lesions May Occur
Lichenified Lesions
Intense Pruritis
Recurrent Blistering
Mutation in the Coiled Coil and C2 Domains Containing Protein 2A
Mutation in the Solute Carrier Family 34 Member 1 Gene
Increased Serum 1,25-Dihydroxyvitamin D
Severe to Profound Prelingual Hearing Loss
Incomplete Atretic Plate
Malformed Ossicular Chain
Near Stenosis of Bony Portion of Auditory Canal
Severe Narrowing of Cartilagenous Auditory Canal
Mutation in the Homeobox A2 Gene
See also Autosomal Dominant Form (176860)
Occasional Late Onset of Symptoms with Homozygosity
May be Lethal in Infancy if Untreated
Mutation in the Protein C Gene
Intraabdominal Venous Thrombosis
Slow Progression
Mean Age of Onset 16 to 19 Years
Caused by Mutation in the Protein S Gene
Some Patients Show Rapid Disease Progression
Onset in Third to Fifth Decade of Life
Mutation in the PI12 Gene
Neuronal Inclusion Bodies Stain for Neuroserpin
Collins Bodies in Neurons of the Cerebral Cortex
Visuospatial Skills Impaired
Most Patients Wheelchair-Bound from 2nd-4th Decade of Life
Mutation in the SGCB Gene
Skeletal Muscle Shows Decreased Sarcoglycan Proteins
Skeletal Muscle Shows Dystrophic Changes
Proximal Muscle Weakness (Limb Girdle)
Caused by Mutation in the Spatacsin Gene
Atrophy of the Thenar and Hypothenar Muscles
Loss of Myelinated Fibers (Nerve Biopsy)
Peripheral Motor and Distal Sensory Neuropathy
Allelic to Infantile Sialic Acid Storage Disorder
Painful Muscle Cramps
Loss of Peripheral Nerve Axons
Loss of Dorsal Root Ganglion Cells
Tetraplegia in Advanced Disease
Mild Loss of Touch and Temperature
Hypo or Areflexia
Allelic to Marshall Syndrome