25601 to 25700 most common queries

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

• Prolactin Low or Not Detectable
• Thyroid Stimulating Hormone Low or Absent
• Growth Hormone Decreased or Absent
• Open Sutures (Untreated Hypothyroidism)
• Hypotonia (untreated Hypothyroidism)
• Hypoplasia of Anterior or Entire Pituitary Gland
• Treatment and Prophylaxis with Oral Folic Acid
• Onset beyond the Second Year of Life
• Mutation in the Adult Folate Receptor 1 Gene
• Cerebrospinal Fluid Methyltetrahydrofolate Decreased
• Severe Developmental Regression
• No mtDNA Depletion
• Proliferation of Bile Ductules
• Oncocytic Changes
• Minimal Inflammation
• Variable Portal and Sinusoidal Fibrosis during Acute Episode
• Liver Size Returns to Normal after 3 Months to 3 Years
• Liver Functions Return to Normal after 3 to 4 Months
• Clinical Improvement after 2 to 3 Weeks of Supportive Care
• Onset at Day 1 of Life Has Been Reported
• Onset Usually at 2 to 6 Months of Age
• Pale, Gray Skin
• Sweat Chloride Normal
• Allelic to Early-Onset Familial Alzheimer Disease
• Mutation in the Matrin 3 Gene
• Susceptibility Conferred by Mutation in the Alpha 2 Macroglobulin Gene
• Mutation in the APP Gene
• Variable Expressivity in Families
• 40% of Patients Have Associated Abnormalities
• Age at Diagnosis 2-4 Months
• Caused by Mutation in the Ribosomal Protein S19 Gene
• Myeloid to Erythroid Ratio Increased - 10:1 to 200:1
• Presence of Erythrocyte Antigen 1
• Mild Neutropenia
• Mild Radial Hypoplasia
• Phenotypic Overlap with FHM1 and SCA6
• Most Common Episodic Ataxia Syndrome
• Conversion of Beta-Carotene to Vitamin A Decreased
• Vitamin A Decreased
• β-Carotene Increased
• Boys Are more Often Affected than Girls
• Seizures Usually Remit in Adolescence
• Gurgling or Drooling during Seizures
• Speaking Difficulties during Seizures
• Seizures Affect the Vocal Cords, Lips, Mouth and Face
• 2.5-3.8 kb Insertion within an Intron of the BEAN Gene
• Some Families Have Axonal CMT (CMT2M)
• Individuals with Normal NCV Values Have Axonal CMT (CMT2M)
• Attacks Non-Responsive to Acetazolamide
• Attacks Typically Last for Minutes
• Wide Range of Onset from Childhood to Adult
• Mutation in the ITPR1 Gene
• Patients May Become Wheelchair-Bound
• Mean Age at Onset 24 Years
• Demyelinating Motor and Sensory Neuropathy
• Mutation in the LTBP3 Gene
• Bone Density in Spine Increased
• Increased Bone Density at Bottom of Skull
• Alveolar Bone Absent Where Teeth Are Missing
• Mutation in the PRPH2 Gene
• Incidental Laboratory Finding, No Clinical Symptoms
• Mutation in the TUBB1 Gene
• Beta Tubulin in Platelets Decreased
• Large Spherical Platelets
• Macrothrombocytopenia
• Ankylosis of Deciduous Teeth
• Lack of Response to Orthodontic Force
• Often Unilateral, Rarely Symmetric
• Male to Female Ratio Increased
• Favorable Response to BH4
• Cerebrospinal Fluid 5-HIAA May Be Normal or Decreased
• Cerebrospinal Fluid Tetrahydrobiopterin Decreased
• Some Patients Show Improvement during Summer or with Fever
• Possibly Death in Infancy due to Sepsis
• Mutation in the Keratin 5 Gene
• Clumping of Keratin Filaments in Basal Epidermal Cells
• Blistering of Hands, Elbows, Knees, Feet
• Blistering in Clusters
• Early Adult Onset Has Been Reported
• Onset in Early Childhood or Adolescence
• Mutation in the KRT14 Gene
• Caused by Mutation in the Keratin 5 Gene
• Atrophic Scarring
• Recurrent Blistering of the Palms and Soles
• Caused by Mutation in the Keratin 14 Gene (KRT14 148066-0001)
• Mutation in the KRT5 Gene
• No Clumping of Keratin Filaments in Epidermal Basal Cells
• Lack of Scarring
• Recurrent Generalized Blistering (after Mild Physical Trauma)
• Impaired Pupillary Response to Light
• Mutation in the Family with Sequence Similarity 134 Member B Gene
• Loss of Small Myelinated Fibers
• Axonal Neuropathy (Sural Nerve Biopsy)
• Anteriorly Displaced Ears
• Normal or Near-Normal Fetal Movements
• Gracile Bones
• Bilateral Humeral Fractures
• Slight Ankle Varus Deformity
• Absence of Germ Cells
• Edema at Birth