Sitemap | Symptoma 26201 to 26300 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Weakness of All Intrinsic Hand Muscles Weakness of the Extensor Muscles of the Hands Retinal Vessels Severely Attenuated Severe Night Blindness Poor Central Vision or Blindness from Birth Defective DNA Repair Cells Show Increased Sensitivity to Ionizing Radiation Mild Distal Muscle Wasting Mild Lower Limb Spasticity Temperature Rhythm Phase-Advanced by 3-4 Hours Melatonin Rhythm Phase-Advanced by 3 4 Hours Mutation in the Homolog of the Drosophila Period 2 Gene Mutation in the Casein Kinase 1 Delta Gene Morning Larks Short Circadian Rhythm Cycle Early Sleep Offset - Almost 4 Hours Advanced Over Controls Early Sleep Onset - Almost 4 Hours Advanced Over Controls Congenital or Rapidly Progressive Hearing Loss Normal Psychomotor Development in Most Variable Age at Onset: Early Childhood to Adulthood Amyotrophy of the Upper Limbs Amyotrophy of the Lower Limbs Mutation in the DTNA Gene (-0001) Prominent Endomyocardial Trabeculations Ovarioleukodystrophy in a Subset of Patients Mutation in the Perforin 1 Gene Mutation in the PIK3R2 Gene S-Scoliosis of Thoracic Spine Increased Risk of Medulloblastoma Submucous Cleft Palate Prominent Philtral Groove Small Birth Length Duplicated Kidneys Small Cavum Septum Wide Sylvian Fissures with Incomplete Opercularization Enlarged White Matter Mildly Thin Corpus Callosum Asperger-Like Features No Language Many Cases Result from De Novo Mutations Hypermotor Automatisms Nocturnal Occurrence Usually during Light Sleep Frontal Lobe Origin Focal Partial Motor Seizures Centrally Located Nuclei Seen on Muscle Biopsy Myotonia Seen on EMG Mutation in the Connexin 26 Gene Eyelashes Sparse or Absent Sparse or Absent Eyebrows Hairs Can Be Painlessly Plucked with Little Force Fine Scalp Hair Thin, Flat Fingernail Plates Mutation in the INVS Gene Onset of Proteinuria in the Second to Fourth Decades Mutation in the FN1 Gene Recessive Inheritance Has Been Reported Mutation in the FASL Gene Mutation in the Fas Antigen Gene Increased Risk of Malignant Lymphoma Some Familial Occurrence most De Novo Aberrations Cisterna Magna Enlarged Restrictive Physiology Low Incidence of Plexiform Neurofibromas Unidentified Bright Structures on Brain MRI Isolated Coloboma Bilateral Microphthalmia May Result in Sudden Death Mutation in the SCN5A Gene Junctional Escape - Ventricular Capture Bigeminy Conduction System Defects Systolic Function Reduced Some Patients Respond to Acetazolamide Mutation in the Solute Carrier Family 2 Member 1 Gene End-Stage Renal Failure in First or Second Decade Onset between First and Third Decade Mutation in the NPHS2 Gene Mesangial IgM Deposition Possible X-Linked Dominant Inheritance All Reported Patients Are Female Malformed Thoracic Vertebrae Low Nasal Bridge Malformed Ribs Gross Motor Delay Dilatation of the 3rd Ventricle White Matter Alterations Mutation in the KRT1 Gene No Large Keratohyalin Granules No Aggregated Tonofilaments No Abnormal Keratohyalin Granules No Cytolysis Thick, Red, Edematous Skin over Joints of Hands and Feet Deep Fissures of Skin Creases Well-Defined Erythematous Border Mutation in the SCARF2 Gene Intra- and Interfamilial Variability of Severity of Phenotype Cataracts Possibly Subclinical Ferritin Hyperglycosylation Ferritin L Subunit Elevated Transferrin Saturation Normal Sunflower Cataract
