Sitemap | Symptoma 33001 to 33100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Abnormal Gait due to Muscle Weakness Paediatric Failure to Thrive Moderate Psychomotor Retardation Weakness of Ankle Plantar Flexion Weakness of Triceps Muscle Brachycephalic Mild Psychomotor Retardation Skin Tag of Chest Blistered Skin Vertical Maxillary Excess Was Noted Facial Myotonia Was Seen Shortened Ulna Laxity of Elbow Recurrent Bronchopulmonary Infections Fine Motor Skills Delayed Generalized Skin Blisters Unable to Stand on Toes Severe Speech Impairment Dilated Pulmonary Arteries Bilateral Pes Planus Bilateral Pes Cavus Thin Lower Lip Vermilion Full Upper Lip Full Lower Lip Papule on Lip Palmar Xanthoma Hip Abduction Hair Absent at Birth Tolerance to Exercise Decreased after Cardiovascular Surgery Rhytide of Forehead Chronic Hypercapnia Mutation in the HSD17B10 Gene Automutilation Non-Specific Changes on ERG in Carrier Females Normal to Near Normal Visual Acuity in Carrier Females Moderate Central Loss of Visual Acuity in Males Peripheral Neuropathy Occurs in Adulthood Onset of Hearing Loss prior to or during Adolescence Abnormal Auditory Brainstem Responses Otoacoustic Emission Amplitude Decreased Loss of Outer Hair Cell Function Cortical Punctate or Pulverulent Opacities Overproduction of Uric Acid and Purines Mutation in the PRPS1 Gene Activity of the PRPP Synthetase 1 Enzyme Increased Secondary Renal Insufficiency Neurodevelopmental Impairment Mutation in the UPF3-B Yeast Homolog Gene Long Hands Poor Musculature See Also Dyggve-Melchior-Clausen Disease Pronounced Lumbar Lordosis Marked Pneumatization of Paranasal Sinuses Calvarial Thickening Restricted Joint Mobility (Shoulders, Elbows, Hips) Mutation in the MED12 Gene Mutation in the Cartilage Associated Protein Gene Skewed X-Inactivation in Carriers Central Balding Clinodactyly of Fifth Digit Overhanging Columella Post-Adolescent Long Narrow Face Low-Normal Platelet Count in Carrier Females Mild Reticulocytosis in Carrier Females Normal Platelet Aggregation Fetal Hemoglobin Increased HbA2 Elevated Alpha : Beta Globin Ratio in Reticulocytes Increased Increased Hair Whorls Inability to Supinate Forearm Arthralgia - Arthritis Flat Femoral Condyles Arthralgia - Arthritis - Hip Relatively Short Stature Mutation in the SPTBN2 Gene Caused by Mutation in the Suppression of Tumorigenicity 14 Gene Central Pili Mono-Bifurcati Dysplastic Hair Persistence of Corneodesmosomes in Stratum Corneum Marked Acanthosis Minimal Hair Growth Lipid-Linked Oligosaccharides Decreased Disialo- and Asialotransferrin Increased Absent Metacarpal Ossification Center Long Fingers with Squared Tips Mild Metaphyseal Irregularities Small Joint Laxity (Especially Hands and Elbows) Pulmonary Artery Atresia Small Ventricle Dilation of Ventricle Dilation of Atrium Pulmonary Agenesis - Usually Bilateral Pulmonary Hypoplasia - Usually Bilateral Only Upward Growing Eyebrows Hypoplastic Bicornate Uterus Number of Skin Folds Increased Constitutional Karyotype Normal Platelet Size Normal Thrombocytopenia at Birth Later Onset Has Been Reported - Third or Fourth Decade
