44601 to 44700 most common queries

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

• Responsive to Thiazide Diuretics
• One Patient Who Died at 5.5 Months of Age Has Been Reported
• Peau D'Orange Retinal Changes
• Paroxysmal Activity - Spike-and-Slow-Wave Temporal Right
• Phosphorylase Kinase Normal in Muscle
• Cystic Kidneys (Possibly Prenatally)
• Oculogyric Dystonic Spasms
• Upper Limb Motor Neuropathy Occurs Later
• Autonomic Dysfunction May Occur
• Microvascular Spaces Dilated
• Normal Hemidesmosomes
• Nuclei Enlarged with Central Pallor
• 1,25-Dihydroxyvitamin D3 Normal
• Fusion of C2 and C3 Posterior Arches
• Mutation in the GATA4 Gene
• Purulent Conjunctival Discharge
• Poor Fixation and Following
• Mild Hypertension
• Liver Phosphorylase Kinase Deficiency
• Renal Dysplasia
• Multiple Pterygia
• Abnormal EEG with Epileptiform Changes
• Mutation in the FH Gene
• Motor Neuropathy Beginning in Lower Limbs
• Dystonia (<20%)
• Widened Lamina Lucida
• Calcium Low to Normal
• Myopathic and Dystrophic Changes (Biopsy)
• Lack of Gonadal Tissue
• Intermittent Muscle Aches
• Focal Episodic Abnormality
• Genital Hypoplasia
• Liver Histology Reveals Glycogen Distended Hepatocytes
• Hypoplastic and Slightly Abnormal Odontoid Process
• Renal Abnormalities
• Atrioventricular Conduction Defect
• Conjunctival Disease
• Mutation in the GP9 Gene
• Angulation of the Frontal Horns
• Junctional Blister Formation
• Genetic Heterogeneity (See HCFP1)
• Dementia (<20%)
• Enlargement of the Wrists
• Generalized Continuous Abnormality
• Usually Presents in Third to Fourth Decade
• Dental Abnormalities
• Mild Motor Development Delay
• Difficulty Running and Jumping
• Non-Hemolytic Unconjugated Hyperbilirubinemia
• Incomplete Crista Galli with Small Ethmoidal Plate Dehiscence
• Cerebellar Neuronal Loss
• Death Often Occurs in the First Decade
• Benign Asymptomatic Defect
• Loss of Superficial Elastic Fibers
• Ventricular Enlargement
• Occurs in the Absence of Trauma
• Facial-Lingual Fasciculation
• Urine Sodium Decreased
• EEG Normal
• Impaired Olfaction
• Plexiform Vascular Lesions
• Enlargement and Bulging of the Costochondral Junction
• Lack of Ependymal Cells
• Vision Loss with Age
• Caused by Mutation in the Transmembrane Protein 237
• Autosomal Recessive Cytochrome B Negative CGD
• Mild Delayed Walking
• Cleft Ethmoid Bone
• A Subset of Patients Have Hearing Loss
• Loss of Dermal Papillae
• Most Patients Do Not Achieve Independent Sitting or Walking
• Mutation in the KHK Gene
• Two Types - One with Premature Ovarian Failure and One without
• Congenital Malformation of the Urinary System
• Provocation Test Positive
• Renal Hypodysplasia
• Oral Motor Dysfunction
• Morning Glory Disc Anomaly
• Arteries Show Medial Hypertrophy
• Rudimentary White Matter
• High Frequency of Levodopa-Induced Dyskinesias
• 'Variant' Form of X-Linked CGD Retains Residual Cytochrome B
• Facial Muscle Weakness of Muscles Innervated by CN VII
• Subepidermal Blistering
• Heterozygous Mutations May Cause Symptoms
• Slowly Progressive Disease
• Allelic to Senior Loken Syndrome 4
• Vomer Duplication
• Mutation in the Forkhead Transcription Factor FOXL2 Gene
• Tracé-alternant
• Neonatal Intestinal Obstruction
• Macrophage Infiltration of White Adipose Tissue
• Symptoms Improve Following Sleep
• Arterial Vascular Wall Remodeling
• Mutation in the KIF5A Gene
• Onset between 2nd and 6th Decade of Life
• Functional Anorchia
• Pneumonia due to Immunodeficiency
• Patients Often Nonambulatory by the Mid Twenties
• Small Midbrain