23501 to 23600 most common queries

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

• Mutation in the Retinol Binding Protein 3 Gene
• Cone Implicit Times Consistent with Progressive Disease
• Tritan Color Vision Deficits
• Bone-Spicule Pigment Clumping
• Death in First Weeks of Life
• Mitochondrial Complex V Assembly Decreased
• Mitochondrial Complex V Activity in Fibroblasts Decreased
• Small Renal Cysts
• Lipid Droplets (Muscle Biopsy)
• Brainstem Damage
• Pons Damage
• Cystic White Matter Degeneration
• Tonus Dysregulation
• Abnormal Primitive Reflexes
• Mutation in the Zinc Finger Protein 141 Gene
• Well-Formed Fifth Toe Duplication
• Small Central Phalanx of Fifth Finger
• Duplicated Distal Phalanx of 5th Finger
• Broad Fifth Finger
• Fifth Finger Duplication Well-Formed
• Raspy Voice
• Epithelial Dyskeratosis of Vocal Cords
• Pruritic Hyperkeratotic Scars
• Finger Joint Hypermobility
• Alveolitis Leading to Tooth Loss
• Stromal Inflammatory Infiltrate
• Bowman Membrane Absent
• Dyskeratotic Keratinization
• Corneal Dyskeratosis
• Maxillary Decalcification
• Migraine with or without Aura
• Broad Metatarsal Bones
• Broad Interphalangeal Joints
• Flattened Humeral Head
• Flattened Epiphysis of the Lower Tibia
• Metaphyseal Irregularity of the Upper Tibia
• Irregular Shallow Acetabular Roofs
• Ratio Femoral Head Diameter:LTCHD Reduced
• Broad Femoral Neck - Mild
• Limited Extension of Elbow Joints
• Shoulder Joints Elevated
• Irregular Surface of Iliac Spine
• Posterior Double Humps of Vertebral Body
• Marked Bilateral Angulation of the Proximal Femur
• Shortening of Upper Extremities
• Bowing of Upper Extremities
• Multiple Fractures of Extremities
• Lack of Bone Modeling
• Closed-Lip Schizencephaly
• Hypoplasia of the Hypothalamus
• Hypoplasia of the Optic Chiasm
• Small Anterior Commissure
• Hypoplasia of the Mesencephalic Tectum
• Congenital Absence of the Vermis
• Unilateral Cerebellar Hypoplasia
• Mutation in the MPDZ Gene
• Simplified Gyration Pattern
• Head-Eye-Lag
• Impaired Ocular Movements
• Distal Muscle Weakness - Predominantly Lower Limbs
• Distal Muscle Atrophy - Predominantly Lower Limbs
• Normal T Cells
• Arrest of B-Cell Development at Very Early Stage
• Recurrent Gastroenteritis
• Mutation in the IL21R Gene
• Cytokine Defects
• Defective IL21R-Related Signaling
• Increased IgE - Impaired NK-Cell Activity
• B Cell Class Switching Impaired
• Normal Numbers of Lymphocytes and NK Cells
• Mutation in the Caspase Recruitment Domain Containing Protein 11 Gene
• Defective Intracellular Signaling in Lymphocytes
• Effector T Cells Decreased
• Regulatory T Cells Decreased
• Differentiated B Cells Decreased
• Transitional B Cells Increased
• Normal Numbers of T and B Cells
• Most Patients Have No Bleeding Abnormalities
• Mutation in the Alpha 1 Actinin Gene
• Mutation in the Regulator of Telomere Elongation Helicase 1 Gene
• No Abnormal Skin Pigmentation
• Immunodeficiency Primarily Affecting B Cell Line
• Mutation in the Gamma B Crystallin Gene
• Later Onset in Females
• Onset around Adolescence in Males
• Variable Nerve Conduction Velocities
• Gradual Visual Impairment
• Mitochondrial Complex III Activity Decreased
• Large Consanguineous Israeli Bedouin Kindred
• Mutation in the UQCRQ Gene
• Onset in Late Infancy
• Mutation in the Ubiquinol Cytochrome C Reductase Protein Gene
• Lactate Increased during Metabolic Crisis
• Severe Neurodegenerative Course Resulting in a Comatose State or Death
• Rapidly Progressive Episodes
• Onset: Late Infancy to Adulthood
• Mutation in the Tetratricopeptide Repeat Domain 19 Gene
• Mitochondrial Complex III Activity in Muscle Decreased
• Cognitive Regression
• Patients Have Normal Levels of Vitamin A, Beta Carotene and Zinc