42101 to 42200 most common queries

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

• Posteriorly Narrowed Vertebral Bodies
• Possibly Death in Infancy
• Macrocephaly due to Hydrocephalus
• Beta Activities Bifrontal Distribution
• Agenesis of Corpus Callosum
• Family History of Alzheimer Disease
• Posteruptive Loss of Surface Enamel
• May be Lethal in Infancy if Untreated
• Posterior Subluxation of the Radial Head
• Not Responsive to Biotin Treatment
• Large Ischium
• Generalized Neonatal Hypotonia
• Relatively Large Skull
• Mitochondrial Respiratory Chain Complex I II and III Defect
• Symptom Onset Ranges from Infancy to Adulthood
• No Corneal Opacities
• Sleep EEG Shows Vertex Waves Normal Symmetry
• Cobblestone Lissencephaly (Posterior-Anterior Gradient of Severity)
• Based on Report of 2 Consanguineous Arab Families
• Pituitary Hormone Deficiencies
• Small, Flat Cervical Vertebrae
• Creamy Enamel at Time of Eruption
• May Be Present in Asymptomatic Adults
• Caused by Mutation in the Homeobox HB9 Gene
• Amyloid Plaque
• Mutation in the Protein C Gene
• Adult Height: 120-150 cm
• Small Ilia
• Mutation in the Cystatin B Gene
• Marked Clinical Heterogeneity
• Microdontia (Maxillary Lateral Incisors)
• Increased Risk of Myocardial Infarction
• Wooly Scalp Hair
• Sleep EEG Shows Vertex Waves Asymmetry Right Greater than Left
• Onset of Disease after Fourth Decade of Life
• Opaque Enamel at Time of Eruption
• Subtle Facial Phenotype Compared to other Types of HPE
• Thick Mandibular Condyles
• Possibly Episodes of Severe Metabolic Decompensation in Infancy
• Granulovacuolar Degeneration
• Intraabdominal Venous Thrombosis
• Ratio Female to Male 19:10 in Index Family
• Normal Intelligence in Type 2B
• Mutation in the NHLRC1 Gene
• Thin, Long, Pointed Nose
• A Second Patient Died at Age 3 Years
• Caused by Mutation in the Mitochondrial tRNA Serine 1 Gene
• Repeat Is Unstable if > 52 Repeats
• Sleep EEG Shows Generalized Slow-Waves Normal Symmetry
• Inverted T Waves in Precordial Leads (ECG)
• Left Ventricular Systolic Dysfunction
• High Occurrence of De Novo Mutations
• 3-Methylcrotonyl-CoA Carboxylase Activity Decreased (<2%)
• Thick Ethmoid Bones
• Nonepidermolytic Keratoderma
• Neurodegeneration Leading to Profound Mental Retardation
• Progressive Dementia
• Late-Onset Corneal Degeneration
• Mean Age of Onset 16 to 19 Years
• Plagiocephaly (Orbital Asymmetry)
• Mutation in the EPM2A Gene
• 50% of Females Have Learning Disability or Mild Mental Retardation
• One Patient Died at Age 7 Years
• Mutation in the Cytochrome C Oxidase Subunit X Gene
• Rhythmic Slowing Frontal Right
• Mild Left Ventricular Dilation
• Acute Ketonuria
• Mutation in the ZIC2 Gene
• Thick Maxilla
• Dilated Aortic Root
• Pseudoainhum of Fifth Toes
• Usually Onset at Age <6 Years and Death by Age 20 Years
• Variable Severity of Brain Malformations
• Caused by Mutation in the Protein S Gene
• Approximately One Third of Patients Become Seizure Free with Age
• Pursed-Lip Breathing
• Long and Prominent Ear Crus
• Mutation in the FMR1 Gene
• Caused by Mutation in the Surfeit 1 Gene
• Arrhythmic Slowing Parietal Left
• Dysmorphic Features Were Only Reported in 1 Patient
• Dilated Cardiomyopathy, Mild
• Acute Hyperammonemia
• Cleft Lip or Palate (10%)
• Keratoderma of Soles at Pressure Points
• Mutation in the SCN3B Gene
• Pulmonary Hypoventilation
• Marked Retardation in Skeletal Maturation
• Some Patients Show Rapid Disease Progression
• Death in Infancy in 2 Patients
• High, Flat Forehead
• Seizures Precipitated by Fatigue or Alcohol
• Anemia (associated with Mutation in the COX10 Gene)
• Arrhythmic Slowing Occipital Right
• Mild Form of Hemoglobin H Disease
• Secondary Decrease of Plasma Free Carnitine
• Abnormal Transaminases
• Cestoda
• Short Nose with Anteverted Nares (73%)
• Striated Keratoderma on Palms