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27601 to 27700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hyperelasticity
Poor Healing with Abnormal Scarring
Soft with Easy Bruising
Cornea Plana
Megalocornea
Hypercompliant Tympanic Membranes
Inguinal Umbilical or Epigastric Hernia
Onset at Age <7 Years
Mutation in the Zinc Finger Protein 644 Gene
Myopic Conus
Tesselated Appearance of Fundus
Tigroid Appearance of Fundus
Severe High Myopia
Catecholamine-Secreting Paraganglioma
Thromboxane B2 Decreased
Claw-like Appearance of Fingernails
Hyponychia
Onychauxis - Thickening
Both Heterozygous and Homozygous Mutations Have Been Reported
Green Color Resolves if Cholestasis Is Treated
Green Jaundice Occurs Only in the Context of Liver Failure or Obstructive Cholestasis
Green Jaundice
Possibly Bilirubin Increased
Biliverdin in Bodily Fluids Increased
Green Serum
Described in Families from Western Japan
Patients with Longer Disease Duration Show Motor Neuron Involvement
Mean Age at Onset of Cerebellar Ataxia: 52.8 Years
Truncal Instability
Onset at Ages 12-30 Years (Average: 22 Years)
Flat Audiogram
High Frequency Tinnitus at Onset
Poor or No Response to Glucocorticoid Treatment
Mutation in the MYO1E Gene
Thickening and Disorganization of the Glomerular Basement Membrane
Microvillous Transformation of Podocytes
Electron Microscopy Shows Foot Process Effacement
Complement Component Deposits
Antibody Deposits
Death in Utero
Malformations of the Mid- and Hindbrain
Death in the Fifth or Sixth Decade
Onset of Dementia in 4th or 5th Decade
Caused by Mutation in the DNA Methyltransferase 1 Gene
Ulceration of the Toes
Loss of Unmyelinated Fibers
Lancinating Pains
Hypometabolism of the Frontal Lobe and Thalamic Regions
Frontal Lobe Atrophy
Decreased Speech
Progressive Memory Impairment
Onset of Seizures Ranges from 2 to 11 Years
Mutation in the LAMC3 Gene
Transient Strabismus
Occipital Polymicrogyria
Occipital Pachygyria
Mild Facial Dysmorphism
Abnormal Lung Lobation
Clinodactyly
Rhizomelic Shortening of the Upper Limbs
Small Nose
Downslanting Palpebral Fissures
Short Palpebral Fissures
Triangular Face
Long Face
Narrow Head
Temporal Bossing
Feet Are Unaffected
Torso and Upper Body Remain Normal in Shape and Contour
Virtually all Patients with this Condition Are Female
Dependent Edema after Excess Fat Has Been Present for Several Years
Easy Bruisability of Lower Extremities
Tenderness of Lower Extremities
Fat Pad between Achilles Tendon and Medial Malleolus
Fat Pad Anterior to Malleolus
Burning or Tingling of Plantar Surface of Foot
Deficiency of Laminin in Basement Membranes
Mild Elbow, Hip and Knee Contractures
Bilateral Sandal Gap
Bilateral Postaxial Polydactyly
Shortening or Bowing of Humeri
Rhizomelic Limbs
Sagittal Suture Synostosis
Everted Lower Lip
Telecanthus
Neonatal Cholestasis
End Stage Renal Disease
Large Prominent Eyes
Tightly Adherent Facial Skin
Normal Growth Parameters at Birth
Mutation in the AARS2 Gene
Histiocytoid Changes
Mild Pulmonary Hypoplasia
Periodic Stiffness
Death before Age 3 Years
Prominent Sutures
Lateral Deviation of the 5th Toe
Adducted Feet
Division of the First Metacarpal
Fusion of the Capitate and Hamate Bones