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39201 to 39300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Tissue Biopsy Shows Granulomas
Abscess Formation in Any Organ
Recurrent Bacterial Infection
Cellulitis due to Immunodeficiency
Perirectal Abscesses due to Immunodeficiency
Hepatic Abscesses due to Immunodeficiency
Excessive Bleeding after Minor Trauma
Partial Factor VIII Deficiency in Heterozygous Carriers
Mutations in the F8 Gene
Petechiae and Purpura Do Not Occur
Common Ecchymoses
Prothrombin Time Normal
CRASH is an Acronym which Encompasses all L1CAM Diseases: Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus
Neonatal or Infant Death
Most Common Form of Inherited Congenital Hydrocephalus
Flexion Deformities of Thumbs (Adducted Thumbs)
Susceptibility to Infections Starts in the First Week of Life
Present but Small Tonsils
Absent Antibody Production
Severe Enteroviral Infections
Delayed Onset of Puberty
See Also Autosomal Dominant Hypophosphatemic Rickets
Usually Men Have More Severe Disease than Women
Mutation in the PHEX Gene
1,25-Dihydroxyvitamin D3 Normal to Low-Normal
Parathyroid Hormone Normal to Mildly Increased
Flattening of the Talar Dome
Shortening of the Talar Neck
Pseudofractures in Adults
Anteroposterior Skull Length Increased
Calcification of Entheses, More Common in Adults
Osteoarthritis More Common in Adults
Rickets in Children
Recurrent Dental Abscesses
Enlarged Pulp Chambers
Defect in Dentin Maturation
Mutation in the CRBN Gene
No Autistic Features
Mildly Delayed Developmental Milestones
Square-Wave Jerks
Onset in Second and Third Decades
Fibrillations and Fasiculations (EMG)
Progressive Gait Ataxia
Later Onset of Ophthalmoparesis
Onset of Sensory Ataxia in Early Adulthood
Mutation in the POLG Gene
Lactate Mildly Increased
Upward Gaze Paresis
Memory Difficulties
Distal Sensory Impairment to Vibration and Proprioception
Sensory Ataxic Neuropathy
Atrophy or Degeneration Involving the Spinal Cord
MRI Shows Cerebellar White Matter Lesions
MRI: Bilateral Thalamic Lesions
Ataxia Worsens in the Dark
Night Blindness from Early Childhood
Haploinsufficiency of GRN
Most Common Subtype of Frontotemporal Dementia (600274)
Mean Age of Onset Is 62 Years
Mutation in the Granulin Gene
Nonspecific Spongiform Degeneration
Astrocytic Gliosis
Cortical and Brainstem Neuronal Loss
Parkinsonism (Late Symptom)
Speech Hesitancy
Progressive Language Deterioration
Favorable Response to Alcohol
Upper Limbs More Often Affected than Lower Limbs
Recurrent Erosions Uncommon
Foreign Body Sensation due to Erosions
Deeper, Fusiform Lattice Deposits Develop Later
Granular Deposits Replace Epithelial Basement Membrane
Dystrophic Changes May be Present
Biopsy Merosin-Positive
Oblique Palpebral Fissures
Allelic to Long QT Syndrome 1
Sella Turcica Enlarged
Patellar and Ankle Clonus
Lower Limb Weakness as Presenting Feature
Mean Age of Onset 50.2 Years
Neck Flexor Muscle Weakness
Early Onset (at about Age 1 Year)
Variable Degree of T Cell Dysfunction
Normal T Cell Numbers
Episodic Blurred Vision
Episodic Scotomas
Tortuous Retinal Arterioles
Deep Hypointensities Suggestive of Past Microbleeds
Clinically Resembles Spinal Muscular Atrophy Type 1
Onset Prenatally or at Birth
EMG Shows Neurogenic Changes
Loss of Anterior Horn Cells
Abnormal Eyebrows
Number of Eyelashes Reduced
'Chubby' Proximal Phalanges
Fish-Like Mouth
Inferior Ocular Cyst
Usually Death Shortly after Birth due to Respiratory Failure
Normal Lung Histology
Respiratory Failure in Infancy