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24901 to 25000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Onset of Alopecia in Infancy
Caused by Mutation in the Ataxia-Telangiectasia Mutated Gene
Clinical Features May Vary
Severe Proximal and Distal Muscle Weakness
Stereotypic Laughter
Vacuolation of Granular Layer
Ventricles Slightly Enlarged
Hyperkeratosis of Skin at Nipples and Umbilicus
Normal Red Cell Counts
Gait Difficulties Due to Contractures of the Lower Limbs
Unilateral Microphthalmia
Genital Tract Abnormalities
Mutation in the CRYAB Gene
Sparse Pigmentation of the Peripheral Ocular Fundus
Multifocal Epileptic Activity
Lower Motor Neuron Involvement after Long Disease Duration
Mild Perivascular Lymphocytic Dermal Infiltrate
Mutation in the WDR81 Gene
Progressive Cone Degeneration
Numbers of Circulating NK Cells Decreased
Bifid Uvula
Digitalization of Thumb
Moderate Erythroderma
Polymorphic Geographic Deposits at Bowman's Layer
Morning Glory Optic Disc
Pigmentary Abnormalities
Chronic Onychomycosis
Normal Hair Follicles
Multiple Mitochondrial DNA Deletions
Movements ('Tremors') Characterized by 8-10 Hz Discharges
Alopecia within Lesion
Proximal Muscle Weakness - Less Severe
Usually Poor Response to Steroids
Asymmetric Palpebral Fissure
Death Usually in Early Childhood
Asthenic Build
Leukocytosis (Mean Leukocyte Count: 18.7*10^9/l)
Bulbous Fingertips
Crenated Cataracts
Mutation in the HSD17B4 Gene
More Severe Loss of Position and Vibration
Mutation in the TIA1 Gene
Urine Pyridinoline and Deoxypyridinoline Elevated
Aspartate Aminotransferase and Creatine Phosphokinase Elevated
Osteosclerosis of the Calcaneus
Osteosclerosis of the Talus
Osteosclerosis in Short Tubular Bones of the Hands
Osteopenic Shafts of Long Bones
Osteosclerosis of the Pubic Bone
Osteosclerosis of the Ischium
Osteosclerosis of the Iliac Crests
Osteosclerosis of Vertebrae
No Osteosclerosis
Less than 3rd Centile
Osteosclerosis of the Scapulae
Osteosclerosis of the Clavicles
Osteosclerosis of the Anterior and Posterior Ribs
Late-Onset Spastic Paraplegia
Mutation in the LAMB1 Gene
Macrocephaly due to Hydrocephalus
Cobblestone Lissencephaly (Posterior-Anterior Gradient of Severity)
Onset of Disease after Fourth Decade of Life
Inverted T Waves in Precordial Leads
Mild Left Ventricular Dilation
Dilated Cardiomyopathy, Mild
Increased Urinary 2-Oxoglutaric Acid
Predominance of the D-Stereoisomer
Germinal Cysts Over the Caudate
Delayed Opercularization
Glycosylation of Alpha-Dystroglycan Decreased (Muscle Biopsy)
Frontotemporal Leukoencephalopathy
Severe Cognitive Impairment
Pale Blond to Light Brown
Malformed Fingernails
Ankylosis of Tarsometatarsal Joint
2nd Metacarpal Exostosis
Total Cutaneous Webbing
Rudimentary Terminal Phalanx
Dysplasia of Middle and/or Distal Phalanges
Bifid 5th Toe
Mesoaxial Camptodactyly
Broad Metacarpal Bones
Broad Carpal Bones
Symphalangism of the DIP Joint
Severe Syndactyly
Ulnar Deviation of Middle Finger
Camptodactyly of 5th Fingers
Mild Ptosis
Muscle Biopsy Shows mtDNA Deletions
Mild Limb Girdle Muscle Weakness
Carpal Coalition (Fusion of Carpal Bones)
Congenital Hip Dislocations Resistant to Surgical Treatment
Cervical Spine Anomalies
Long, Oval-Shaped Face
Mutation in the POLE Gene
Telangiectasia on the Cheeks
Modeling Defects at the Long Bone Diaphyses
Cortical Thickening
Lacunar Bone Lesions
Bone Dysplasia