30401 to 30500 most common queries

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

• Adult Onset Retinal Degeneration
• Adult-Onset Pigmented Macular Degeneration
• Polymorphic B Cell Lymphoproliferation
• Exocrine Pancreatic Function Normal
• Nasal Potential Difference Increased
• Sweat Chloride Elevated
• Low-Set Columella
• V-Shaped Nasal Tip
• Occipital Cutis Aplasia
• Slender Habitus
• Cytogenetic Deletion of Chromosome 19q13
• Little or No Speech Acquisition
• Hepatic Glycogen Accumulation
• Clinical and Biochemical Abnormalities Improve with Age
• Mutation in the PHKG2 Gene
• Growth Retardation in Childhood
• Moderately Decreased to Normal PHK Activity in Skeletal Muscle
• PHK Activity in Liver Decreased
• Motor Development Mildly Delayed
• Macroglossia - Untreated Hypothyroidism
• Short Nose with Anteverted Nostrils
• Mutation in the POU1F1 Gene
• Severe Growth Retardation in Infancy
• Short Stature if Untreated
• Prolactin Low or Not Detectable
• Thyroid Stimulating Hormone Low or Absent
• Growth Hormone Decreased or Absent
• Open Fontanelles - Untreated Hypothyroidism
• 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
• Coagulopathy Secondary to Liver Failure
• 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
• Yellow-Orange Colored Skin
• 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