34901 to 35000 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• No Sensory Abnormalities
• Autism or Autistic Features
• Hypoplastic or Dysplastic Kidney
• Urine Disaccharides like Mannosyl N-Acetylglucosamine Increased
• Early Onset Myoclonic Seizures
• Possibly Reversal of Hypogonadotropic Hypogonadism
• Shortening of Upper Extremities
• No mtDNA Depletion
• Caused by Mutation in the WD Repeat-Containing Protein 11 Gene
• Mutation in the Paraplegin Gene
• Prominent Veins - Lower Limbs
• Lower Limb Muscle Weakness (Occurs Later)
• Quadrupedal Gait
• Bilirubin Level Increased
• Absence of Lower Motor Neuron Involvement
• C10ORF2 Mutations Account for Approximately 35% of All PEO Cases
• Duplication of 1.0-2.5 Mb on Chromosome 17q12
• Thenar Amyotrophy
• Bowing of Upper Extremities
• One Patient Has Been Reported - Last Curated January 2010
• Endo and Perimysial Connective Tissue Increased
• Proliferation of Bile Ductules
• Average Age at Diagnosis 17.8 Years
• Fusion of Fourth and Fifth Metacarpal Bones
• Severity and Frequency of Seizures Improve with Age
• Breathing Difficulty due to Vocal Cord Paralysis
• Gonadotropins Low or Normal
• Variable Age at Diagnosis
• Lactic Acidosis during Infection
• Lytic Metastatic Bone Lesion
• Cortical Atrophy with Loss of Pyramidal Neurons in the Motor Cortex
• Muscle Biopsy Shows Multiple Mitochondrial DNA Deletions
• Possibly Mild Facial Dysmorphism
• Multiple Fractures of Extremities
• Bilaterally Short Second Fingers
• Thromboembolic Stroke May Occur
• Caused by Mutation in the Cytochrome B5A Gene
• Mirror Hand Movements
• Oncocytic Changes
• Absence of Collagen VI Immunostaining
• Poorly Responsive Seizures
• Caused by Mutations in the Desmoplakin Gene
• Carrier Rate of 1 in 11 Among Old Order Amish
• Estradiol in Females Low
• Mutation in the SEC23B Gene
• Severe Phenotype
• Pseudobulbar Symptoms (Uncontrolled Laughter, Weeping)
• Progressive Demyelinating Peripheral Neuropathy
• Lack of Bone Modeling
• Mild Brachydactyly
• Isolated Atrial Fibrillation
• Estradiol Decreased
• Patients Have Normal Pituitary Function
• Muscle Biopsy Shows Merosin-Positive Muscle Fibers
• Death Usually Within First Year of Life
• Onset in the First Hours or Days of Life
• Hypoglycosylation of Erythrocyte Membranes
• Levels of Erythrocyte Cytochrome B5 Decreased
• Focal Detachment of Desmosomes Into the Intercellular Spaces
• Cerebral Calcification
• Variable Portal and Sinusoidal Fibrosis during Acute Episode
• Onset in First Hours to Days of Life
• Poor Dental Development
• Closed-Lip Schizencephaly
• Rotational Tongue Movements
• Genetic Heterogeneity (see CMT2A)
• Death in Untreated Children
• Gonadotropin Levels Low to Undetectable
• Some Patients Never Achieve Ambulation
• Mutation in the ABCD4 Gene
• Progression of the Disorder is Precipitated by Viral Symptoms
• Methemoglobin Concentration 12 to 19%
• Two Families Reported (as of August 2014)
• Acantholysis Throughout all Layers of the Skin
• Liver Size Returns to Normal after 3 Months to 3 Years
• Small, Concave Nose
• Mutation in the SLC25A22 Gene
• Hypoplasia of the Hypothalamus
• Cleft Soft Palate
• Holoprosencephaly
• Peak Age of Onset in Second Decade
• Mutation in the WNT10B Gene
• Mutation in the Dihydrolipoamide Dehydrogenase Gene
• Mutation in the Solute Carrier Family 25 Member 19 Gene
• Hyperkeratotic Plaques on Trunk and Limbs
• Facial Wrinkles
• Liver Functions Return to Normal after 3 to 4 Months
• Enlarged Right Ventricle
• Mutation in the SLC13A5 Gene
• High Frequency in Hutterite Population
• Broad Nasal Root or Bridge
• Evolution to Severe Encephalopathy
• Small Anterior Commissure
• Hyperpigmented Patches Increase in Size and Number with Age
• Mutations in the AGPAT2 Gene
• Mutation in the Dihydrolipoamide Branched Chain Transacylase Gene
• Caused by Mutation in the EVC Gene
• Progressive Frontotemporal Cerebral Atrophy
• Urine 2 Ketoglutarate Increased
• Unilateral Megacalicosis