Sitemap | Symptoma 26501 to 26600 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Poor Sweating in Response to Heat Profuse Sweating of the Upper Body Induced by Cold Exposure Inability to Fully Close Eyes during Sleep Chronic Keratitis Poor Growth in Infancy Subcortical White Matter Abnormalities (MRI) Howell-Jolly Bodies Seen in Peripheral Blood Smear Possibly X-Linked Recessive Inheritance Wrinkling of Skin on Limbs Abnormality of Digit Downturned Mouth Corners Mutation in the TINF2 Gene Metaphyseal Defects Short Ribs Small Thoracic Cavity Prominent Second Heart Sound Thickened Interlobular Septae Seen on CT Pulmonary Veno-Occlusive Disease Seen on Biopsy Physical Features Apparent at Birth Long Thin Bones with Enlarged Metaphyseal Endplates Irregular Metaphyseal Endplates Thin Diaphyses Trident Configuration of Acetabula Vertebral Body Hypoplasia Partly Unossified Atlas at Birth Hypoplasia of the Facial Bones Widely Open Sutures Persistent Fontanelles Pseudohydrocephalus Small Dense Unerupted Teeth Beak-Shaped Nose Aged Face Apparent Macrocephaly Fat Accumulation in the Suprabuttock Area Variable Endocrine Abnormalities Cutaneous Syndactyly 2nd and 3rd Toe Some Patients Are Clinically Unaffected Mutation in the 5 Oxoprolinase Gene Urinary 5-Oxo-L-Proline Elevated Calcium Oxalate or Carbonate Kidney Stones Circulating Phosphate Low Some Patients Survive Infancy Mutation in the Family with Sequence Similarity 20% Member C Gene Large Halluces Thick Fingers Absence of Ossification of Sacrum No Ossification of Vertebral Bodies C3-C5 Natal Teeth Abnormal Teeth Large, Protruding Tongue Mixed Hearing Loss Dysplastic Ears 'Fishlike' Facies Craniofacial Dysplasia Plagiocephaly Multiple Fracture-Like Rib Lesions Stenotic Ostia of Ureters Bilateral Hydroureter Renal Cortex Calcification Double Renal Pelvis Tubular Resorption of Phosphate Decreased Microscrotum Self-Stimulating Behavior Mutation in the S Antigen Gene Some Patients May Lose Independent Ambulation Areflexia of the Upper Limbs Hyporeflexia of the Upper Limbs Caused by Mutation in the Myosin Va Gene Round-Shaped Iliac Bones Mutation in the Mitochondrial Methionyl tRNA Formyltransferase Gene Oral Hypotonia Neuropathic Process Seen on Muscle Biopsy Chronic Denervation (EMG) Absent or Small Sphenoidal Sinus Absent or Small Frontal Sinus Abnormal Mucus Caused by Mutation in the Arylsulfatase B Gene Progressive Joint Stiffness Normal Gums Postsurgical Retinal Detachment Flat Anterior Chamber Deep Anterior Chamber Upper to Lower Body Ratio Decreased Arm Span : Height Ratio Increased Mutation in the Occludin Gene Early Onset Myoclonic Seizures Caused by Mutation in the Cytochrome B5A Gene Cyanosis due to Methemoglobinemia Levels of Erythrocyte Cytochrome B5 Decreased Methemoglobin Concentration 12 to 19% Depressed Nasal Root or Bridge Broad Nasal Root or Bridge Megalocornea (Diameter >12 mm) Delayed Myelination on Brain MRI Diffuse Cerebral Cortical Atrophy Primary Hypothyroidism White Matter Signal Abnormalities in Various Brain Regions Diffusion Abnormalities (MRI) Possibly Onset Later in Childhood Possibly Infantile Onset
