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30401 to 30500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Possibly Death in Infancy due to Sepsis