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26001 to 26100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Onset in Early to Late Childhood
Talus Valgus
Muscle Biopsy Shows Mitochondrial Aggregates
Activity of Respiratory Complex I and III Decreased
Respiratory Complex II + III Activity Decreased
Cilia May Be Static with Slow Activity
Mutation in the Aldolase A Fructose Bisphosphatase Gene
Normal Red Cell Osmotic Fragility
Long Halluces
Proximal Implantation of Thumb
Ultrastructural Neuronal Ceroid Lipofuscinosis in Only One Family
Rectilinear Profiles in Cells (Ultrastructural Analysis)
Granular Osmiophilic Cytoplasmic Deposits in Cells
Mild Optic Atrophy
Death Often in First Months of Life
Profound Psychomotor Retardation in Those Who Survive
Onset at Birth or in First Days of Life
Dysmorphic Features Described in 1 Patient
Reduced Activity of Mitochondrial Respiratory Chains
Edematous Hands and Feet
Mutation in the IRX5 Gene
Small Patent Ductus Arteriosus
Ectopic Finger Creases
Thumb Deviation
Worn-Out Teeth
Thin or Hypoplastic Enamel
Thin Upper Vermilion Border
Pointed Nasal Tip
Absence or Dysfunction of Nasolacrimal Structures
Progressive Severe Myopia
Severe Hypertelorism
Mild Micrognathia
Parotid Gland Dysfunction
Bulging Midface
Extra Frontal Hair Whorl
Absent Gonad Activity
Downturned Upper Lip
High Nasal Bridge
Ectodermal Symptoms
Partial Deficiency of Factor XI
Anterior Segment Mesenchymal Dysgenesis
Congenital, Progressive, Posterior Polar Cataract
Cataracts Usually Congenital
Mutation in the Mitochondrial Ts Translation Elongation Factor Gene
Concentric Hypertrophic Cardiomyopathy
Abnormal Signals in the Thalami Seen on MRI
Left Ventricular Involvement
Woolly Hair
Mild Palmoplantar Keratoderma
Mutation in the KAT8 Regulatory NSL Complex Subunit 1 Gene
Inability to Recognize Someone Familiar by the Face Alone
Saccadic Ocular Pursuit
Leg Weakness
Lower Limb Muscle Atrophy
Mild Distal Peripheral Sensory Loss
Mild Cerebellar Signs
Nyctalopia (Late Symptom)
Onset in the First or Second Decades of Life
Central Scotomata on Photopic and Dark Adapted Perimetry Testing
Reduced and Delayed Cone Responses on Electroretinography
Marked Macular Dysfunction on Electroretinography
Mild Macular Atrophy
Progressively Reduced Red-Green Color Vision
Mild Horizontal Nystagmus
Variable Astigmatism
Progressive Reduced Central Vision
Moderate to High Myopia
Caused by Mutation in the DNA Polymerase Gamma 2 Gene
Caused by Mutation in the Decorin Gene
No Corneal Erosions
Progressive Painless Visual Loss
Congenital Progressive Corneal Stromal Opacification
Oromotor Dyspraxia
Irregular Folding of the Cortex
Asymmetric or Symmetric Polymicrogyria
Variable Malformations of Cortex
Normal Scotopic Responses on Rod Electroretinogram
Stationary Cone Degeneration
Central Scotoma on Goldmann Visual Field
Central Macular Atrophy
Macular Granularity
Founder Effect in Irish Travelers
Glucocorticoid Deficiency Occurs in Mid-Childhood
Growth Retardation Onset in Utero
Mutation in the MCM4 Gene
Cell Studies Show Increased DNA Breakage
Susceptibility to Cancer Increased
Mildly Delayed Cognitive Development
Corticosteroid Deficiency
Mutation in the CIB2 Gene
Mutation in the DDHD1 Gene
Axonal Neuropathy
MRI Shows No Structural Brain Abnormalities
Left Ventricular Ejection Fraction Decreased
Subsarcolemmal Nemaline Bodies on Gomori Trichrome Staining
Type 1 Fiber Atrophy Seen on Muscle Biopsy
Type 1 Fiber Predominance Seen on Muscle Biopsy
Increased Variability of Fiber Size Seen on Muscle Biopsy
At Birth There Is Generalized Red Scaly Skin
Variable Penetrance of These Features