19501 to 19600 most common queries

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

• Proximal Muscle Weakness Limb Girdle Distribution
• Caused by Mutation in the Transcription Factor-12 Gene
• Syndactyly between Adjacent Toes
• Malocclusion Class 1 or 2
• Minor Ear Anomalies
• Prominent Cerebrospinal Fluid Spaces
• Prominent Ventricles
• Asperger Syndrome
• White Skin
• Depigmented Iris
• Mutation in the Leucyl tRNA Synthetase 2 Gene
• Upsloping Audiograms
• Hearing Loss More Severe at Lower Frequencies
• Aplastic Toenails
• Café Au Lait Spots on Chest and Abdomen
• Soft Tissue Syndactyly
• Absent Middle Phalanges of Some Toes
• Absent Distal Phalanges of Some or All Toes
• Bony Defect of Scalp Underlying Cutis Aplasia
• Temporal Lobe Infarct
• Mutation in the NOTCH3 Gene
• Slowly or Non-Progressive
• Knee Contractures
• Neurogenic Abnormalities (EMG)
• Proximal and Distal Muscle Atrophy (Especially Lower Limbs)
• Proximal and Distal Muscle Weakness (Especially Lower Limbs)
• Loss of Motor Neurons in the Anterior Horn of the Spinal Cord
• Upper Motor Signs
• Mild Brain Anomalies (MRI)
• Early Death due to Infection May Occur
• Mutation in the Homolog of the Yeast Vacuolar Sorting Protein 45 Gene
• Abnormal Development of Neutrophils (Bone Marrow)
• Nucleated Red Cells in Peripheral Blood
• Recurrent Bacterial and Fungal Infections
• Enlarged Kidneys due to Extramedullary Hematopoiesis
• Patients May Become Wheelchair-Bound as Adults
• Proximal Muscles May be Mildly Affected
• Distal Limb Muscle Atrophy Lower more than Upper
• Regenerating Clusters of Axons
• Peripheral Neuropathy Causing Distal Leg Weakness
• Microcephaly (>4 SD)
• Delayed Brain Stem Development
• Delayed Cerebellar Development
• Mutation in the DARS Gene
• Independent Walking Never Achieved
• Spasticity Lower Limbs Greater than Upper Limbs
• Transferrin Isoelectric Focusing Test Normal
• Abnormal Urine Oligosaccharides
• Mutation in the N-Glycanase 1 Gene
• Congenital Absence of Tears
• Amorphous Substance in the Cytoplasm
• Inflammatory Liver Changes
• Mildly Delayed Myelination
• Increased Chromosome Breakage
• Cleft Lip and-or Palate
• Quadrupedal Locomotion
• Mutation in the IL17RD Gene
• Fatal if Renal Transplant is not Performed
• Foot Process Effacement
• Immature Podocytes
• Abnormal Glomeruli (Biopsy)
• Resting Metabolic Rate Increased
• Adiponectin Decreased
• Normal Adipose Tissue in the Face
• Increased Focal Mitochondrial Density
• Preservation of Visceral Neck and Axillary Fat Pads
• Lack of Adipose Tissue on Limbs and Femorogluteal Regions
• Mutation in the Alpha 4 Laminin Gene
• Loss of Endothelial Cells (Myocardial Biopsy)
• Markedly Decreased Ejection Fraction
• Severe Dilated Cardiomyopathy
• Aniso-Poikilocytosis on Blood Smear
• Thyroid Failure
• Adrenal Failure
• Dysfunction of Hypothalamo-Pituitary-Gonadal Axis
• Wide Intrafamiliar Range of Severity
• 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
• 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
• Pruritic Hyperkeratotic Scars
• Finger Joint Hypermobility
• Alveolitis Leading to Tooth Loss
• Bowman Membrane Absent