Sitemap | Symptoma 21001 to 21100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 T Cell Activation Increased
