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25701 to 25800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Vibratory Sense in the Lower Limbs Decreased
Caused by Mutation in the Ventral Anterior Homeobox-1 Gene
Bilateral Cleft Palate
Bilateral Small Optic Nerve
Severe Bilateral Microphthalmia
Head Circumference <3rd Percentile
Height in Third Centile
Vertical Orientation of Hippocampus
Some Patients May Not Achieve Walking
Death May Occur in Childhood due to Respiratory Failure
Focal Z-Band Disarray Devoid of Mitochondria (EM)
Minicores
Myopathic Changes in Affected Muscle (EMG)
Some May Not Achieve Ambulation
Described in Families from Galicia, Spain
Gaze Limitation
Horizontal Gaze Nystagmus
Hearing Loss Progressive
Chronic Denervation Seen on Skeletal Muscle Biopsy
Distal Skeletal Muscle Atrophy (Late Symptom)
Fasciculations (Late Symptom)
Dystrophy of Free Margin of Fingernails
Onycholysis of Fingernails
Peripheral Pulmonary Stenosis
Death in Childhood May Occur Due to Infection
Normal Numbers of Absolute B Cells
Genu Recurvatum
Joint Hyperlaxity
Mutation in the Hepatic Lipase Gene
Mutation in the MER Tyrosine Kinase Protooncogene
Autofluorescent Dots in Posterior Pole
Electroretinographic Responses Decreased or Non-Recordable
Thinning of the Photoreceptor Layer (OCT)
Wrinkled Appearance of Inner Retina
High Reflectivity of Fundus
Pigment Mottling in Mid Periphery
Bone Spicule Pigment Depositions
Intraretinal Pigment Deposition Extending to Posterior Pole
Bull's Eye Macular Retinal Pigment Epithelium Changes
Color Vision Deficits
Mutation in the Gene Encoding Alpha B Crystallin
Complete Cataract
Nuclear Cataract
Posterior Polar Cataract
Mutation in the NRL Gene
Non-Detectable ERG, All Components (Older Individuals)
Asymptomatic Photopic Visual Field Defects
Progressive Peripapillary Chorioretinal Atrophy
Optic Disc Pallor in Fourth Decade of Life
Pigmentation in Retinal Periphery
Visual Acuity in Fourth Decade of Life Decreased
Night Blindness with Onset in 1st-2nd Decade of Life
Contiguous Gene Deletion of 12 Mb Encompassing 47 Genes on 1p32-p31
Dysplastic Helices
Death Usually Occurs in Early Infancy
Mutation in the JAM3 Gene
Cystic Renal Dysplasia
Atrophic Pons
Subependymal Calcifications
Porencephalic Changes
Cystic Destruction of Brain Tissue Including Basal Ganglia
Multifocal Intraparenchymal Brain Hemorrhage
Onset in Adolescence or Young Adulthood
Caused by Mutation in the Anoctamin 10 Gene
Tortuous Conjunctival Vessels
Mild Atrophy of the Proximal Lower Limbs
Cerebellar Atrophy Severe
Adults May Lose Ability to Walk
Rapid Progression in Adolescence
Late-Onset Contractures
Multifocal Discharges
Discharges Migrating between Cortical Regions
EEG Generalized Slowing
Seizures Are Refractory to Treatment
Seizure Frequency Decreases during Early Childhood
Multiple Seizures Daily at Onset
Posterior White Matter Volume Reduced
Generalized Stiffening
Allelic to Spastic Paraplegia Type 3
Mutation in the Atlastin 1 Gene
Mild Pes Cavus
Lancinating Pain
Reflexes May be Decreased, Normal or Increased
Spasticity in Infancy
Upper Motor Involvement
Square Distal Fingertips
Long Columella Extending below the Alae Nasi
Normal Palpebral Fissures
Mildly Downslanting Palpebral Fissures
Heavy Arched Eyebrows
Possibly Mild Manifestations in Heterozygote Carriers
Mutation in the Coagulation Factor II Gene
F2 Activity Decreased
F2 Antigen Levels Decreased
Onset in Utero or in Infancy
Mutation in the SRY Box 17 Gene
Duplication of the Renal Pelvis
Mutation in the KLF1 Gene
Erythroblasts Show Atypical Cytoplasmic Inclusions
Bone Marrow Smear Shows Erythroid Hyperplasia