43101 to 43200 most common queries

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

• Rotary Head Movements - 'Rolling Tremor'
• Lack of Abnormal Hepatic Pigmentation
• Age at Diagnosis 28 +- 18 Years
• Straight, Coarse Hair
• Flared Acromion
• Short Stature (in 1 of 2 Sibs)
• Caused by Mutation in the Zinc Finger Protein 335 Gene
• Favorable Response to Minocycline or Azithromycin
• Caused by Mutations in the Kindlin 1 Gene (KIND1)
• Cystinuria Type 1
• Cholestanol Increased
• Abnormal Gait
• Autonomic Involvement Affecting Limbs during Episodes
• Paroxysmal Activity - Spikes Frontal Left
• Ovaries Small to Normal (Ultrasound)
• A Subset of Patients May Have Normal Levels of Blood Lactate
• Caused by Mutation in the Acid Beta Glucosidase Gene
• Patients with MEB May Acquire Ability to Walk and a Few Words
• 15 Patients from 5 Kindreds Reported (as of February 2012)
• Small Fingernails
• Cholesterol Normal to Slightly Increased
• Severe Psychomotor Retardation (IQ: 35-65)
• Mitochondrial Respiratory Chain Complex Decreased
• Mode of Inheritance is Unclear
• Diffuse Skin Wrinkling (Especially Dorsa of Hands and Feet)
• Mild Widening of the Ribs (in 1/2 Sibs)
• Prominent Helices
• Poor Coordination of the Lower Extremity
• Low Anti Mullerian Hormone Level
• Paroxysmal Activity - Spikes Parietal Right
• Majority of WWS Patients Dies within the First Year of Life
• Mild Onychodystrophy of the Toenails (Occasionally)
• A Subset of Patients May Have Subtle Increases in Blood Lactate
• Neurofibrillary Tangles Composed of Disordered Microtubules
• Mutation in the WNK Lysine Deficient Protein Kinase 4 Gene
• Tendon Xanthomas
• Prevalence in Persons of Ashkenazi Jewish Descent Increased
• Partial Agenesis of the Corpus Callosum (1/2 Sibs)
• Telangiectases in Sun-Exposed and Non-Exposed Skin
• Onset in Teenage or Young Adult Years
• Normal Mitochondrial Respiratory Chain Complex I-V
• Large Soft Hands
• Severe Microcephaly (>9 SD)
• Uric Acid Increased
• Caused by Mutation in the Protein O-Mannosyltransferase-1 Gene
• Markedly Widened Intercellular Spaces
• Paroxysmal Activity - Spikes Occipital Left
• Chronic Lactic Acidosis
• Luteinizing Hormone Level Elevated
• Postural Hypotension without Compensatory Tachycardia
• Hyperkalemia - 6.4 +- 0.7 mM
• Spinal Cord Paresis
• Transient Neonatal Hypoglycemia
• Diffuse Skin Atrophy (Especially Dorsa of Hands and Feet)
• Simplified Gyral Pattern (in 1 of 2 Sibs)
• Squat Papillomatosis
• Delayed Second Dentition
• Joint Range of Motion Increased
• Insulin Decreased
• Paroxysmal Activity - Spikes Frontal
• Keratin 1-Staining Restricted to Spinous Layer
• Cleft Palate (WWS)
• Variable Infectious Phenotype
• Poor Dendritic Maturation
• Severe Lactic Acidosis
• Breath Holding Episodes
• Mutation in the ATPase Family Gene 3-Like Protein 2 Gene
• Epidermal Undulation
• Flares Triggered by Viral Infection Overexertion Stress
• Occasionally Misdiagnosis of Down Syndrome
• Transient Neonatal Hypocalcemia (2p21del)
• Neonatal Acral Blistering
• Yellow-Brown Discoloration of The Teeth
• Magnesium Decreased
• Mutation in the TYK2 Gene
• Abnormal Cell Orientation
• Large Medial Incisors
• A Subset of Patients Improve with Thiamine
• Paroxysmal Activity - Spike-and -Slow-Wave Temporal Left
• Cleft Lip (WWS)
• Thickened Granular Zone
• mtDNA Decreased
• Confluent, Centrally Erythematous (Later Brown) Papillomatosis
• Erythematous Skin Blotching
• Enterocolitis Tends to Remit with Age
• Death Usually in First Year of Life
• Pseudoainhum of Toes
• Hypocalicifed Hypoplastic Enamel
• Lactate Normal
• Physiologic Coordination
• Little Polarity in Remaining Neurons
• Blindness (WWS)
• Large, Open Mouth
• Facial Dysmorphism (35%)
• Recurrent Skin Abscesses
• Paroxysmal Activity - Spike-and-Slow-Wave Parietal
• Peripheral Reticular Papillomatosis, 1-2 mm, Growing and Coalescing
• Large Lipid Droplets
• Sensitivity to Adrenergic and Cholinergic Agents Increased
• Plasmalogen Decreased