43701 to 43800 most common queries

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

• Sleep EEG Shows Generalized Moderate Amplitude Slow-Waves
• Susceptible to Hyperthermia
• Taunt Skin
• Lewy Bodies in the Brain
• Most Mutations Occur De Novo
• Circulating B Cells Decreased
• Decreased Penetrance
• Generalized Sclerosis
• Osteoarthritis - Back Hip Knee
• Encephalocele - Single Case
• Cone-Driven 1-Hz Response with Unusual Waveform (ERG)
• Difficulty Running and Climbing Stairs
• Quadricuspid Pulmonary Valve
• Infantile Liver Abnormalities in < 20% with Deficiency
• Cognition is Spared
• Rhythmic Slowing
• Late Onset Slowly Progressing Form of Retinitis Pigmentosa
• Mutation in the Ectodysplasin A Gene
• Marked Phenotypic Variability
• Mutation in the TMEM138 Gene
• Final Adult Height: 131-156 cm
• Disorder Usually Remains Stable over Time
• Severe Midface Hypoplasia
• Distal Phalanges Absent
• Hepatic Intracellular Inclusions in ZZ Homozygotes
• Dissociative Disorder
• Rhythmic Slowing Temporal Right
• Positive Component on Electroretinography Reduced
• Mutation in the Perlecan Gene
• Abnormal Mouth
• Neuropsychologic Cognitive Abnormalities
• Progressive Action Tremor
• Mutation in the Kelch-Like Protein 7 Gene
• Caused by Mutation in the 41 kD Centrosomal Protein Gene
• EEG Later Shows Generalized Spikes or Polyspikes and Focal Spikes
• Mutation in the WAS Gene
• Hoarse Voice due to Dry Laryngeal Mucosa
• Pain or Cramping during Sustained Manual Activity
• Mutation in the PI Gene
• Perseveration
• One Consanguineous Pakistani Has Been Reported
• Abnormal Nose
• Preserved Negative Component on Electroretinography
• Clinically Similar to Torsion Dystonia 1 (DYT1)
• Death at Birth or Shortly after Birth
• Sparing of Far Periphery
• Disdiadochokinesia
• PBG Deaminase Deficiency Possibly Clinically Asymptomatic (90%)
• One Patient Has Been Reported (as of January 2012)
• Rhythmic Intermittent Slowing
• EEG May Be Initially Normal
• Abnormal Corticospinal Tract Decussation
• Atrophic Mucosa Causing Dysphonia
• Mean Platelet Volume Decreased
• Caused by Mutation in the Beta-B3 Crystallin Gene
• Absent or Abnormal Eyelids
• One Family of Mali Origin Reported (as of January 2013)
• Hepatitis D Virus
• Begins in Hands or Feet - Later Generalized
• Particularly High Incidence in Identical Twins
• Bilaterally Concentric Constriction of Visual Fields
• Attacks More Common in Women
• Majority of Children Die before Age 2
• Progressive Myoclonic Seizures
• Arrhythmic Slowing Frontal
• Mutation in the ZNF592 Gene
• Mutation in the LIAS Gene
• Atrophic Pharyngeal Mucosa
• Writing Fatigability
• Difficulties in Fine Movement of the Hands
• Pterygia
• Gyri Decreased or Absent
• Cortical Cataract
• Strong Retention of Foveal Function
• Hyperviscosity
• Women May Be Mildly Affected
• Prominent Vasculature of Nose and Forehead
• Acute Attacks Rarely Occur before Puberty
• 3-Oxoacyl-CoA-Thiolase Unprocessed
• Arrhythmic Slowing Parietal
• Ataxia Cerebellar Limb and Gait
• Isolated Ectopia Lentis
• Dimples Overlying Contractures
• Three Patients Have Been Described (last Curated January 2013)
• Blonde, Fine Scalp Hair
• Increased Urinary and Serum Glycine
• Absent Outer Dynein Arms in the Axoneme
• Genu Valgum or Genu Varum
• Symptoms Begin Focally, Later Segmental or Generalized
• Difficulties in Fine Bimanual Activities
• Caused by Deletion of 4.06 Mb of Chromosome 14q22.1-q22.3
• Loss of Peripheral Retinal Tissue
• Hyperosmolar State
• During Acute Attacks, Urine δ-ALA and PBG Increased
• Acyl-CoA:Dihydroxyacetonephosphate Acyltransferase Deficiency
• Arrhythmic Slowing Occipital
• Severe Metacarpal or Phalangeal Joint Contractures
• Oculogyric Eye Movements
• Mutation in the KRT14 Gene
• Fibroblasts Accumulate Dol-PP-GlcNAc2Man5