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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