22801 to 22900 most common queries

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

• Mutation in the STAG3 Gene
• Possible Increased Risk of Germ-Cell Tumors
• Small or Undeveloped Breasts
• Ovarian Cancer
• Streak Ovaries on Ultrasound
• Large Optic Discs
• Bilateral Ureteral Aplasia
• Bilateral Renal Aplasia
• Frequently Fatal within the First Year of Life
• C-Peptide Low or Undetectable
• Anteriorly Placed Anus
• Mutation in the EDN1 Gene
• Dilation of Vein of Galen
• Thickened Zygomatic Process of Right Temporal Bone
• Submucosal Velar Cleft
• Lingual Appendages
• Ectopic Uvula
• Bilateral Conductive Hearing Loss
• Mutation in the KIAA0226 Gene
• Age of Onset: 18-53 Years
• Small Horn Cysts
• Pronounced Hyperpigmentation at Tips of Rete Ridges
• Digitiform Acanthosis of the Rete Ridges
• Small Vessel Disease
• Perivascular T Lymphocytes
• Interstitial Neutrophils and Macrophages
• Vasculitis in the Reticular Dermis
• Lupus Anticoagulant
• Acute-Phase Reactants during Fever
• Ischemic Digital Necrosis
• Neurologic Sequelae of Stroke
• Brownish-Black Macules on Dorsa of Hands and Feet
• Spotted and Reticulate Pigmentation of Flexural Areas of Skin
• Mutation in the LZTR1 Gene
• Prominent Subnasal Region
• Progressive Optic Nerve Atrophy
• Small, Atonic Pupils
• Broad Dense Laterally Descending Eyebrows
• Widened Lateral Ventricles
• Speech Severely Limited or Absent
• Postnatal Development of Hypertonic Extremities
• Congenital Axial or Generalized Hypotonia
• Mutation in the TRK Fused Gene
• Mild Sensory Impairment
• Normal Early Developmental Milestones
• Age of Onset from 18 to 45 Years
• No Vestibular Dysfunction
• Post-Lingual Bilateral Progressive Hearing Loss
• Variable Clinical Features
• Two Peaks of Onset - Childhood and Adult
• Mutation in the Chloride Channel 2 Gene
• Chorioretinopathy
• Myelin Microvacuolation
• Diffuse Hyperintensities in the White Matter in Children
• Low Apparent Diffusion Coefficients
• Older Individuals Had Moderate to Severe Hearing Loss
• Age of Onset 5 to 40 Years
• Vertigo - Single Occurrence
• Loss of Independent Ambulation in Second Decade
• Gait Difficulties and Beginning of Cognitive Decline in First Decade
• Onset in Early Childhood after Initially Normal Development
• Mutation in the COASY Gene
• Hypointensities in the Basal Ganglia (T2-Weighted)
• Iron Accumulation in the Basal Ganglia Seen on MRI
• Normal Initial Psychomotor Development
• Reported in the Ohio Amish Anabaptist Community
• Caused by Mutation in the Kaptin Gene (KPTN)
• Macrocephaly (3-5 SD)
• Mutation in the CSPP1 Gene
• Single Nostril
• Anophthalmia
• Fused Eyes
• Short, Horizontal Ribs
• Hyperechogenic Kidneys
• Elongated Superior Cerebellar Peduncles
• Dysplastic Superior Cerebellar Vermis
• Mild Bowing of Humeri and Femora
• Irregular Sciatic Notches
• Trident Acetabulum with Spurs
• Dilated Calyces
• Caused by Mutation in the Atlastin GTPase 3 Gene
• Impaired Bone Healing
• Chronic Ulceration due to Sensory Neuropathy
• Bone Destruction
• Anemia Does Not Respond to Alpha Interferon Treatment
• Anemia Is Transfusion-Dependent
• Erythroid Hyperplasia Seen on Bone Marrow Biopsy
• Metatarsal Duplication
• Hypoplasia of Terminal Phalanges
• Abnormal Phalanges
• Chronic Respiratory Distress
• Trident Acetabulum
• Early Cystic Dysplasia
• Mild Structural Abnormalities
• End Stage Renal Disease by Third Decade of Life
• Mild Ventriculomegaly
• Onset between 8 and 30 Years
• Mutation in the Tenascin C Gene
• Postlingual Progressive Sensorineural Hearing Loss
• Sphincter Dysfunction