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25101 to 25200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Regularly Spaced Holes in Granular Layer
Amounts of Keratohyalin Increased
Marked Desquamation of Upper Loosely Packed Scales
Thick Cornified Layer
Squamous Pityriasiform Appearance of Scalp
Fine, Greyish-White Scales
Generalized Ichthyosis Including Flexures
Mild Alopecia
Mild Perivascular Lymphocytic Infiltrates
Thick Orthohyperkeratosis
Palmoplantar Hyperlinearity
Generalized Fine Erythrodermic Scales
End-Stage Renal Failure Not in All Patients
Some Patients Respond to Immunosuppressive Agents
Onset Usually in the First Decade
Mutation in the DGKE Gene
Complement Levels Normal
End-Stage Renal Failure
Swelling of Endothelial Cells
Subendothelial Deposits
Patchy Deposition of IgG and IgM
Focal Capillary Obliteration
Splitting of the Basement Membrane
Subcortical Atrophy
Impaired Executive Function
Onset at Age 3-7 Months
Inability to Hold Head
Onset in Childhood
Mutation in the Potassium Channel Subfamily T Member 1 Gene
Nocturnal Occurrence
Bone Spicules
Variable Features Present
Clinodactyly 5th Finger
Partial Preaxial Polydactyly
Narrow Nares
Nasolacrimal Duct Obstruction due to Ectropion of Lower Eyelids
Mild Sensorineural Hearing Loss
Protruding Ears
Increased Posterior Angulation
Retrognathia
Trigonocephaly
Right-Sided Spleen
Left Sided Liver
Situs Inversus Totalis
Right Hemidiaphragm Elevated
Developmental Delay - Variable Severity
Oral Contraceptives May Also Cause Symptoms
Mutation in the TMEM231 Gene
MRI Scan showing Molar Tooth Sign
Poor Fixation and Following
Lack of Gonadal Tissue
Cerebellar Neuronal Loss
Lack of Ependymal Cells
Rudimentary White Matter
Functional Anorchia
Arthrogryposis
Poor Visual Tracking
Cortical Visual Impairment
Dysmorphic Features
Cerebral White Matter Decreased
Relative Preservation of the Cerebellar Folia
Brain MRI Shows Cerebellar Hypoplasia
Involuntary, Repetitive Movements
Spasticity Usually of the Lower Limbs
Lack of Independent Walking
Normal Development until Onset of Seizures
Seizures Become Nearly Continuous
Onset of Seizures at Age <6 Months
Poor Eye Contact
Neuronal Loss in the Hippocampus
Delayed Myelination Seen on MRI
Migrating Focal Discharges from One Cortical Region to Another
Autonomic Manifestations
Psychomotor Regression Severe
Mitochondrial Translation Impaired
Lactate Increased
Mutation in the FARS2 Gene
Coarse Retinal Pigmentation
Increased Glycogen Content
Enlarged Hepatocytes
Microcystic Degeneration
Pyramidal Cells Decreased
Cortical Degeneration
T2 Weighted Hyperintensities in the Basal Ganglia
Diffuse Cerebral Atrophy Seen on MRI
Mutation in the OTOG Gene
Vestibular Hyporeflexia
Flat or Shallow U-Shaped Audiogram
Deafness Nonprogressive Moderate
Mutation in the Otogelin-Like Protein Gene
Vestibular Hypofunction
Older Patients Become Wheelchair Dependent
Adult-Onset (2nd to 7th Decade)
Late-Onset Mild Cerebellar Ataxia
Frequent Falls with Preservation of Consciousness
Cortical Multifocal Myoclonus
Papillomatous Hyperplasia
Stratum Spinosum Thickened
Stratum Granulosum Increased
Large and Cup-Like Keratin Plugs