21001 to 21100 most common queries

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

• High Follicle-Stimulating Hormone Levels
• High Luteinizing Hormone Levels
• Mutation in the PRKACG Gene
• Platelets Show Defective Activation
• Usually Favorable Response to Treatment
• Seizures Tend to Remit Later in Childhood
• Caused by Mutation in the Syntaxin 1B Gene
• Myoclonic-Astatic Seizures
• Macular Atrophy
• Pale Optic Discs
• Onset of Symptoms in Third to Sixth Decade of Life
• Mildly Abnormal Cone Function on ERG
• Severely Reduced Central Responses on Multifocal ERG
• Central Scotoma on Visual Field Testing
• Color Vision Deficit (Green or Red Green)
• Slightly or Moderately Attenuated Vessels
• Relative Sparing of Periphery
• Pale or Atrophic Peripapillary Area
• Central Retinal Pigment Epithelium Changes
• Relative Sparing of Fovea with Surrounding Atrophic Ring
• Profound Atrophy in Fovea
• Bull's Eye Maculopathy
• Mutation in the MFAP5 Gene
• Thoracic Aortic Dissection
• Mutation in the Leiomodin 3 Gene
• Feeding Difficulties due to Muscle Weakness
• Short and Thickened Z-Discs
• Thin Filament Shortening and Disorganization
• Poor Sarcomeric Structure
• Muscle Biopsy Shows Nemaline Rods
• Replacement of Myofibers with Connective Tissue
• Mutation in the Purine Rich Element Binding Protein A Gene
• Mutation in the IGHMBP2 Gene
• Abnormal Tongue Shape
• Mild Proximal Muscle Weakness
• Lower and Upper Limbs Affected
• Distal Motor Impairment
• Mutation in the FAR1 Gene
• Mild Dysmorphic Facial Features
• Mutation in the RARS Gene
• Poor Visual Fixation
• Poor Smooth Pursuit
• Hypertonicity of the Lower Limbs
• Mild Global Cerebral Atrophy
• Brain Imaging Shows Hypomyelination
• Poor or Absent Independent Walking
• Spasticity Mostly in Lower Limbs
• Onset in First Weeks or Months of Life
• Mutation in the GRIN2B Gene
• Episodic Axial Muscle Hyperextension
• Inability to Sit
• Onset of Ataxia and Neuropathy in Early Twenties
• Onset of Hearing Loss in Childhood
• Mutation in the Chromosome 10 Open Reading Frame 2 Gene
• Pyruvate Mildly Increased
• Mild Ophthalmoplegia
• Movement Abnormalities of the Extremities
• Lack of Secondary Sex Characteristics
• Caused by Mutation in the CWF19-Like Protein 1 Gene
• Hyperreflexia in the Lower Extremities
• Cerebellar Hypoplasia Predominantly Affecting the Vermis
• Extremity Ataxia
• Necrotic Skin Ulcers
• Lymphadenitis Subsequent to BCG Vaccination
• Lymphadenopathy Subsequent to BCG Vaccination
• Susceptibility to Mycobacterial Disease
• Herpetic Lesions
• Onset of Disease in Fourth or Fifth Decade of Life
• Caused by Mutation in the Fibrillin-2 Gene
• Atrophic Macular Disease
• Pigment Epithelial Atrophy of Macula
• Pigmentary Changes of Macula
• Mutation in the NDST1 Gene
• Symptoms Usually Resolve without Treatment
• Onset in Early Infancy - 2 to 3 Months of Age
• Non Pruritic
• Episodic Urticarial Rash
• Caused by Mutation in the DMX-like 2 Gene (DMXL2)
• Partial Frontal Alopecia
• Small Testicular Volume
• Peripheral Demyelinating Polyneuropathy
• Hypoplastic Pituitary Gland
• Mild Cerebellar Hypoplasia
• Moderate Subcortical Temporal White Matter Disease
• Non-Autoimmune Insulin-Dependent Diabetes in 2nd Decade of Life
• Episodic Asymptomatic Severe Hypoglycemia in Childhood
• Thyroid-Stimulating Hormone Normal
• Free T4 Levels Low
• Luteinizing Hormone Levels Low
• Mutation in the RDH11 Gene
• Prominent Alae Nasi
• Bone Spicule Pigmentation in Periphery
• Relative Sparing of Fovea
• Mottled Pigmentation of Retina
• Mild Upslanting Palpebral Fissure
• Attached Ear Lobes
• Difficulties with Fine Motor Skills and Coordination
• Mutation in the Cytotoxic T Lymphocyte Associated Protein 4 Gene
• Granulomatous Lymphocytic Interstitial Lung Disease
• B Cell Survival and Tolerance Decreased