18501 to 18600 most common queries

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

• Congenital Absence of the Pericardium
• Single Umbilical Artery
• Absent Right 12th Rib
• Bilateral Cervical Ribs
• The MTTL1 c.3243A-G Transition Is the Most Common Mutation
• Caused by Mutation in the Ectodysplasin A Gene
• Trinucleotide Repeat Expansion CAGn in the Androgen Receptor Gene
• Mutation in the RNA Binding Motif Protein 10 Gene
• Squeaky Cry
• Airway Abnormalities
• Abnormal Hair Patterning
• Proximally Short Radius
• Widely Split Sagittal Sutures
• Tongue Nodules
• Simple Helix
• Short Sternum
• Variable Age of Onset of Parkinsonism
• Tau Immunreactivity
• Alpha-Synuclein-Immunoreactive Lewy Neurites
• Alpha Synuclein Immunreactive Lewy Bodies
• Loss of Dopaminergic Neurons in the Substantia Nigra
• L-Dopa-Responsive Parkinsonism
• If Untreated, Death Usually Occurs in Infancy or Childhood
• Villous Atrophy (Biopsy)
• Additional Features Vary
• Axonal Dystrophy
• Contiguous Gene Duplication on Xq26.3
• Mild Ventricular Hypertrophy
• Height Velocity Increased
• Tall Stature (+3-4 SD)
• IGF1 Levels Elevated
• Prominent Body Odor
• Sweating at Early Age Increased
• Respiratory Distress in Infancy
• Excess Skin around the Neck
• Mutation in the MID2 Gene
• Mild, Non-Specific Facial Dysmorphism
• Acute and Chronic Dermal Inflammation
• Flexion Contractures of Hands due to Severe Hyperkeratosis
• Periorificial Hyperkeratotic Lesions
• Severe Palmoplantar Keratosis
• Hyperkeratotic Lesions of Posterior Neck
• Absence of Premolar Teeth
• Hyperkeratotic Plaque around Nostrils
• Corneal Vascularization Extending to Central Cornea
• Caused by Mutation in the High-Mobility Group Box 3 Gene
• Abnormal Serum Transferrin Pattern
• Females May be Unaffected or Mildly Affected
• Caused by Mutation in the Histone Deacetylase 8 Gene
• Nevus Flammeus
• Variable Extraneurologic Features
• Pigmentation Abnormalities
• Linear, Plaque-Like Scales
• Iron Deposition
• Long Birth Length
• Scant Iron Deposition in the Brain
• Spongy Gliosis
• Irregular Spikes and Slow Waves
• Caused by Mutation in the Histone Deacetylase 6 Gene
• Incomplete Penetrance in Females
• Motor Symptoms Are Variable
• Onset in Females Ranges from Third to Seventh Decade
• Onset in Males in First to Third Decade
• Caused by Mutation in the Ubiquilin 2 Gene
• Axonal Loss and Gliosis in the Corticospinal Tracts
• Neuronal Loss and Gliosis in the Cerebral Cortex
• Mutation in the DLG3 Gene
• Molar Hypoplasia
• Mutation in the GRIA3 Gene
• Phenotype May Be Exacerbated by Maltreatment in Childhood
• Mutation in the Monoamine Oxidase A Gene
• MAOA Products Decreased
• Urine Levels of MAO-A Substrates Increased
• Monoamine Oxidase A Activity Decreased
• Angry Outbursts
• Mild to Severe Intellectual Disability
• Age at Onset Can Range from Infancy to Childhood
• Patient Cells Show Abnormal Mitochondrial Morphology
• Mild Frontotemporal Atrophy Seen on MRI
• Caused by Mutations in the BCL6 Corepressor Gene (BCOR)
• Absent Kidneys
• Hypoplastic or Absent Optic Chiasm
• Skin Wrinkling Improves with Age
• Mutation in the ATP6V0A2 Gene
• Recurrent Lower Respiratory Infections
• Frayed, Broken, and Shortened Elastic Fibers
• Generalized Skin Wrinkling
• Normal Isoelectric Focusing of Apolipoprotein CIII
• 'Dragonfly-Like' Pattern
• Mutation in the Chromosome 5 Open Reading Frame 42 Gene
• Abnormal Hair Growth Pattern
• Hypoplasia of Fifth Toes
• Bilateral Cutaneous Syndactyly of 2nd-4th Toes
• Bilateral Cutaneous Syndactyly of 3rd and 4th Fingers
• Serrated Incisors
• Pilar Dysplasia
• Cutaneous Laxity
• Bone Anomalies
• Olfactory Bulb Agenesis
• Coloboma of Optic Nerve