Sitemap | Symptoma 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
