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26901 to 27000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Hyperpigmentation of the Macula
Papillomacular Detachment
Retinal Staphyloma
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)
Echogenic Kidneys
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)
Stellate Cataract
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
Hyperkeratosis of Stratum Corneum
Acanthotic Epidermis
Warty Thickening of Flexural Skin
Abnormally Shaped Ribs or Clavicles
Mild Diaphyseal Changes of Long Bones
Posterior Cortical Thickening of Fibulae
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
Calcified Falx Cerebri
Calvarial Hyperostosis
Not All Patients Have a Myopathy
Marrow Infarctions
Bone Marrow Necrosis
Necrosis in Long Bone Diaphyses
Diaphyseal Medullary Stenosis
Diaphyseal Cortical Thickening
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
Ascending Numbness and Weakness
Diffuse Leptomeningeal Enhancement Seen on MRI
Pigmentary Changes on the Shins
Facial Dysmorphism Not in All Patients
Septal Q Wave
Aldolase A Deficiency
Loss of Lamina Dura
Fetal Pleural Effusion
Refractive Errors (Astigmatism, Hyperopia, Myopia)
Ocular Hypopigmentation
Strabismus - Most Frequently Exotropia
Supranuclear Gaze Palsy
Caused by an Expanded Hexanucleotide Repeat
Poor Judgement
TDP43 Positive Neuronal and Glial Cytoplasmic Inclusions
Myelin Loss in the Corticospinal Tracts
Superficial Laminar Spongiosis
Neuropathology Shows Neuronal Degeneration