Sitemap | Symptoma 22501 to 22600 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Atlanto-Occipital Instability Atlanto-Axial Instability Extensive Caries Flat Face Gracile Ribs Generalized Cortical Atrophy Motor Delay Bronchiectasis due to Chronic Upper Respiratory Tract Infections Neonatal Collodion Skin Alpha Hydroxyadipic Aciduria - Alpha Aminoadipic Aciduria Caused by Mutation in the Prokineticin Receptor-2 Gene Hyperlaxity of Digits Fibrous Dysplasia Fatal in First Few Months of Life in Most Cases Thymus Hypoplasia Variable Severity Mutation in the SCN9A Gene Distal Painless Ulcers Ulceration of Digits Numbers of Tongue Fungiform Papilla Reduced Asymmetric Hearing Impairment Sensory Nerve Conduction Velocities Decreased Sensory Nerve Action Potential Amplitudes Reduced Loss of Myelinated Fibers Seen in Sural Nerve Biopsy Temperature Sensation Possibly Decreased Alternating Birefringent Pattern on Polarization Microscopy Irregular Ridged Surface on Light and Electron Microscopy Sulfur Content of Hair Decreased Cystine Content of Hair Decreased Stubby Eyebrow Hair Short, Wooly Hair Dyschromic Nails Ichthyosiform Areas of Skin Delayed Ossification Hypoplastic Teeth Anteverted Nares Thick Alae Large and Depressed Nasal Root Brittle and Sparse Eyelashes Brittle and Sparse Eyebrows Mild Retrognathia Cortical Atrophy Partial Agenesis of the Corpus Callosum Severe Hypotonia Beta-Oxidation of Pristanic Acid Decreased Spastic Diplegia Mutation in the GORAB Gene Skin Wrinkling - Limited to Dorsum of Hands and Feet and Abdomen Irregular Endplates (in Adults) Platyspondyly (in Adults) Relative Prognathism Droopy Face Normal Fontanels Mutation in the ANTXR1 Gene Mutation in the Collagen XI Alpha 1 Polypeptide Gene Mutation in the CDH3 Gene Mutation in the Homolog of the Drosophila Atonal Protein 7 Gene Autofluorescent Pigment in Microglia and Macrophages Absence of Vestibular Evoked Myogenic Potentials No Reproducible Waves I, III or V at High Intensities Bilateral Dys-Synchronized Auditory Brainstem Responses Absent Cochlear Microphonic Increase in Amplitude and Duration of Cochlear Microphonic Absent Ipsilateral Middle Ear Muscle Reflexes Distortion Product Otoacoustic Emissions Absent Severe to Profound Hearing Impairment by Early Adulthood Effacement of Epithelial Foot Processes Mutation in the Gap Junction Protein Alpha 1 Gene Defective Enamel Formation Mutation in the WDPCP Gene Bilateral Broad Hallux No Oral Cleft No Tongue Lobulation Tongue Polyps (Hamartomas) Normal Intellectual Development Caused by Mutation in the Cyclin M4 Gene Small Cornea Lens Opacity Mild Hypertropia Reduced Visual Evoked Potentials Anomalies of the Foramen Magnum Abnormally Shaped Ears Omovertebral Bone Long, Hyperextensible Fingers Vertebral Segmentation Defects Wide Ala Nasi Frontal Upsweep Birthweight > 90th Percentile Affable Demeanor Cerebellar Herniation Cyst of Septum Pellucidum Hypoplasia or Dysgenesis of the Corpus Callosum Enlarged or Prominent Ventricles Non-Verbal Aberrant Patellae Polydactyly, Usually Postaxial Early Death Often due to Respiratory Complications Choanal Atresia or Choanal Stenosis Mutation in the Alsin Gene Variable Age of Onset of Renal Manifestations
