22501 to 22600 most common queries

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

• Ascending Aorta Dissection
• Progressive Early Onset Myopia
• Flattened Epiphyses around Knee Joint
• Mildly Shortened Vertebral Bodies
• Onset Usually after Viral Infection
• Contiguous Gene Deletion of Imprinted Region of 11p15.5
• Contiguous Gene Duplication of Imprinted Region of 11p15.5
• Mutation in the KCNQ1 Overlapping Transcript 1 Gene
• Duplication or Deletion at 11p15.5
• Onset in Childhood or Adolescence
• Whispering Dysphonia
• Hypoplasia or Absence of Distal Phalanges
• Syndactyly of Toes
• Short Terminal Phalanx of the Fifth Finger
• Triphalangeal Thumbs
• May Result in Early Death
• Brittle Hair
• Often Results in Death in Childhood
• Mutation in the SOST Gene
• Difficulty Breathing through the Nostrils
• Undertubulation of the Long Bones of the Legs
• Cement Lines
• Cortical Sclerosis of Facial Bones
• Facial Bone Hyperplasia
• Progressive Visual Impairment Mild
• Significant Phenotypic Variability
• Lens Opacity
• Posterior Lens Luxation
• Cystic Degeneration of the Macula
• Retinal Vessels Abnormal
• Abnormal Retinal Pigment Epithelium
• Absent Optic Nerve Head
• Optic Disc Hyperplasia
• Commonly End-Stage Renal Disease Requiring Kidney Transplantation
• Mutation in the PAX2 Gene
• Anomalous Renal Pelvis
• Dentition Delayed
• Megaloblepharon (Large Eyelids)
• Renal Involvement
• Tonically Dilated Pupils
• Agenesis of First and Second Premolars
• Slow or Nonprogressive
• Mutation in the Inositol-1,4,5-Triphosphate Receptor 1 Gene
• Atrophy of the Cerebellar Vermis (MRI)
• Cataracts Variably Present at Birth
• Variable Cataract Phenotypes Within a Family
• Mutation in the Heat Shock Transcription Factor 4
• Vision Usually Normal
• Nonprogressive Anterior Polar Cataract
• Caused by Mutation in the Keratin 10 Gene
• Mutation in the Keratin 1 Gene
• Tonofilament Aggregation in Suprabasal Keratinocytes
• Keratin Clumping in Suprabasal Epidermal Layers
• Warty Thickening of Flexural Skin
• Abnormally Shaped Ribs or Clavicles
• Mild Diaphyseal Changes of Long Bones
• Posterior Cortical Thickening of Tibiae
• Broadening or 'Tibialization' of Fibulae
• Anterior Bowing of Diaphyses of Fibulae
• Anterior Bowing of Diaphyses of Tibiae
• Malformation of Vertebral Column
• Embedded Vertebral Body L5
• Calvarial Hyperostosis
• Variable Mental Retardation
• Not All Patients Have a Myopathy
• Marrow Infarctions
• Bone Marrow Necrosis
• Necrosis in Long Bone Diaphyses
• Diaphyseal Medullary Stenosis
• Pathologic Fractures of Long Bones
• Bony Dysplasia
• Myopathic Changes Seen on EMG and Muscle Biopsy
• Limb Girdle Muscle Weakness
• Lack of Pupillary Dilation in the Dark
• Hyperreflexia - Lower Limbs More than Upper Limbs
• Independent Walking Delayed
• Intrafamilial Variability in Nail Changes
• Absent or Hypoplastic Nails of Second through Fifth Digits
• Complete Anonychia of First Digits of Hands and Feet
• Tapered Distal Phalanges
• Patellae Present Bilaterally
• Absent or Hypoplastic Distal Phalanges of Feet
• Absent or Hypoplastic Distal Phalanges of Hands
• Gastrointestinal Dysautonomia
• Systemic Amyloid Deposition May Occur
• Neuropathic, Cardiac, Leptomeningeal, or Ocular Predominance
• Muscle Weakness due to Peripheral Neuropathy
• Diffuse Leptomeningeal Enhancement Seen on MRI
• Pigmentary Changes on the Shins
• Facial Dysmorphism Not in All Patients
• Aldolase A Deficiency
• Refractive Errors (Astigmatism, Hyperopia, Myopia)
• Ocular Hypopigmentation
• Strabismus - Most Frequently Exotropia
• Supranuclear Gaze Palsy
• Patients Can Have ALS, FTD or Both
• Caused by an Expanded Hexanucleotide Repeat
• Poor Judgement
• TDP43 Positive Neuronal and Glial Cytoplasmic Inclusions
• Myelin Loss in the Corticospinal Tracts