Sitemap | Symptoma 29201 to 29300 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Tapered Distal End Trichorrhexis Nodora-Like Anomaly Sparse to No Body Hair Sparse to No Axillary Hair Sparse to No Eyebrows Sparse Scalp Hair from Birth Mutation in the CEP152 Gene Microcephaly - 5 to 7 SD below the Mean Brain Size Reduced Jerky Movements in Infancy Mild Psychomotor Delay Variable Phenotype Particularly with Regard to Cortical Malformations Microcephaly (4-7 SD) Afebrile Seizures Later in Childhood Persistence of Febrile Seizures Beyond Age 6 Years Myotonic Seizures Subcortical Nodular Grey Matter Heterotopia Obstruction of the Foramen of Monro Focal Cerebellar Dysplasia Cerebellar Hypoplasia due to Enlarged Foramen Magnum Brain MRI Shows Hypoplasia of the Corpus Callosum Hypermobile Fingers (Beak of Swan) Recurrent Infections at Variable Sites Hypoplasia of Eyebrow Phosphate Normal or Increased Calcium Low or Normal Multiple Hormone Resistance Mutation in the DNAJB6 Gene Fatty Replacement Inclusions Are TDP43 Immunoreactive DNAJB6-Immunoreactive Inclusions Tubulofilamentous Inclusions Myofibrillar Disintegration Dystrophic Changes Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy Myopathic Changes Seen on EMG China Frequency of Homozygotes in Korea: 1 in 50,000 Frequency of SLC25A13 Homozygotes in Japan: 1 in 19,000 Frequency in Individuals of Asian Descent Increased Favoring of Fat and Protein Natural Aversion to Carbohydrates Mean Age at Diagnosis: 40 Years Secondary Decreased Activity of Argininosuccinate Synthetase Pancreatic Secretory Trypsin Inhibitor Increased Hepatocyte Ballooning Sudden Onset of Neuropsychiatric Symptoms Marked Cachexia Decreased Activities of Complexes I, III and IV - Variable Activity of Cytochrome C Oxidase Decreased (Muscle Biopsy) Distal Limb Muscle Atrophy Incomplete Penetrance with 45 to 51 Repeats Pathogenic Alleles Contain 52 to 86 Repeats Normal Alleles Contain up to 44 Repeats Trinucleotide Repeat Expansion in the MJD Gene Mutation in the NKX2-5 Gene Mitral Valve Double Orifice Atrioventricular Conduction Defects Atrial Septal Defect - Cribriform Type Pupillary Constriction to Light Impaired Mutation in the Muscarinic Cholinergic Receptor 3 Gene Non-Clonal Myeloproliferation Inflammatory Markers Elevated Intrauterine Fractures of Long Bones and Clavicles Polyclonal Hyperglobulinemia Nasal Mass due to Histiocytosis Orbital Mass due to Histiocytosis Histiocytic Deposits in Eyelids Mild Pancreatic Hypoplasia Pancreatomegaly Normal Alleles Contain up to 30 Repeats Mutation in the CHKB Gene Dilated Cardiomyopathy (in about 50%) Mitochondria Are Placed at the Periphery of Muscle Fibers Muscle Biopsy Shows Necrotic and Regenerating Fibers Some Patients Never Achieve Independent Ambulation Dysmorphic Facial Features May not be Present Mutation in the 24-Dehydrocholesterol Reductase Gene Gyral Pattern Effaced White Matter Decreased Fat Pads Become Less Prominent with Time Fetal Toe Pads Deep Grooves on Soles with Pillowing in between Fetal Finger Pads Deep Creases on Palms with Pillowing in Between Fat Pads Anterior to Calcaneus Progressive Scoliosis Central Palatal Ridge Long Upper Lip with Thin Vermilion Border Hypertelorism or Telecanthus Short and Narrow Palpebral Fissures Broad Flat Philtrum High Frontal Hairline Less than Fiftieth Centile <10th Percentile Medial Flexion of the Hands Short, Curved Forearms Dilated Bowman Capsules Germline or Somatic Mutations May Cause the Disorder Mutation in the POMP Gene
