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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