Sitemap | Symptoma 27901 to 28000 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Bilateral Renal Hamartomas Mutation in the PEX2 Gene Episodic Bleeding Defective Bile Acid Metabolism Peroxisome Deficiency Accumulation of Pipecolic Acid Di- and Trihydroxycholestanoic Acid Accumulation Very Long Chain Fatty Acid Accumulation Phytanic Acid Accumulation Radioulnar Synostosis Possibly Lethal in Neonatal Period Urine, Sweat, Saliva and Stool Sodium Markedly Elevated Usually Neonatal or Infantile Death Mutation in the RIPK4 Gene Skin Tags on Genitalia Skin Tags on Palms Bilateral Pterygia Bilateral Pterygium of Wrist Bilateral Pterygium of Elbow Bilateral Inguinal Pterygium Bilateral Axillary Pterygium Bilateral Popliteal Pterygium Oligosyndactyly of Toes Thumb Aplasia Bony Synostosis Hypoplasia of Iliac Wing Filiform Bands between Mandible and Maxilla Eyelid Colobomata Medial Canthal Webbing Absent Eyelashes Eyebrows Absent Low-Set Umbilicus Asymmetric Nipples Bilateral Cryptorchidism Clitoris Absent Hypoplastic Genitalia Mutation in the Never in Mitosis Gene A-Related Kinase 1 Gene Malformed Larynx Hallucal and Postaxial Polysyndactyly Markedly Stunted and Disorganized Endochondral Ossification Glomerular and Renal Tubular Cysts Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency Defects in Executive Function Social Sensitivity Attention Deficit Disorder - in Those Who Stop Treatment Self Mutilation if Left Untreated Aggression (if Untreated) Autistic Features if Left Untreated Hyperactivity (if Untreated) Psychosis if Left Untreated Mental Processing Speed Decreased Nystagmus is Often the Presenting Sign Progressive Joint Contractures Slow Pupillary Reflexes Pale Ocular Fundus Horizontal or Rotary Nystagmus N-Acetylaspartate Decreased Brain MRI Shows Arrest in Myelination No Speech Acquisition Most Patients Require Ambulatory Aids about 10 Years after Onset Adult Onset - 40s Caused by Mutation in the Transglutaminase 6 Gene Saccadic Slowing Cerebellar Ataxia - Upper and Lower Limbs Affected Short, Bulbous Nose Thick Earlobes Deep Prominent Philtrum Body Habitus Becomes Apparent in Childhood Mutation in the PLIN1 Gene Cervical Adipose Tissue Normal Normal Facial Adipose Tissue Adipose Fibrosis Increased Biopsy of Adipose Tissue Shows Reduced Adipocyte Size Lipoatrophy of Trunk Cushingoid Appearance Ovarian Hyperandrogenemia Mutation in the Homolog of the Rat Nexilin Gene Left Ventricular Anterior Wall Hypertrophy Asymmetric Interventricular Septal Hypertrophy Mutation in the Calreticulin 3 Gene Mutation in the PLN Gene Death Usually at Age <2 Years Onset in First 8 Weeks of Life Granular Deposits in the Sarcomeres Z-Band Streaming Eosinophilic Inclusions Endomysial Fibrosis EMG Shows Increased Insertion Activity and Fibrillation Electroretinography Responses Nondetectable Cystoid Macular Edema Retinal Blood Vessels Attenuated Central Islands of Vision Only Peripheral Vision Reduced Night Vision Impaired Visual Acuity Ranges from 20/20 to Light Perception Only Cleft Lip and-or Palate Hyperextensibility of the Interphalangeal Joints Mild Bone Deformities Repeated Bone Fractures Fatal before Age 2 Years
