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Pulverulent Cataract Congenital Nuclear Cataract Favorable Response to Ursodeoxycholic Acid Treatment Recurrence of Symptoms after Cholecystectomy Onset Usually before Age 40 Years Bile Shows Increased Cholesterol : Phospholipid Ratio Bile Contains Cholesterol Crystals Periportal Macrophage Infiltration Echogenic Material in Intrahepatic Bile Ducts Intrahepatic Sludge Intrahepatic Cholelithiasis Caused by Mutation in the Janus Kinase 3 Gene Pendred Syndrome, Deafness with Goiter Fluctuating or Progressive Hearing Loss Hearing Loss is Pre- or Perilingual in Onset Cochlear Malformation Defect Vestibular Abnormalities No Predisposition to Skin Tumor Development Os odontoideum and Atlanto-Axial Instability Dysplastic Nails - 1st and 2nd Toes No Abnormalities of Sweating Hypoplastic Nails of Affected Digits Normal Great Toes Absent or Hypoplastic Toes Duplication of Metacarpal IV Partial Distal Aphalangia Childhood Onset May Occur Lack of Inflammation Cysts Lined by Cuboidal or Flattened Epithelial Cells Normal Acini Are Replaced with Honeycombed Cysts Bilateral Swelling of Parotid Gland Mutation in the TRPV4 Gene Type 2 Fiber Predominance Proximal Pelvic Girdle Muscle Weakness Variable Respiratory Chain Enzyme Deficiency Mutant mtDNA Threonine Transfer RNA Gene of Questionable Etiology Photosensitivity and Bullous Dermatitis Number of Small Megakaryocytes Decreased Dyserythropoiesis in Bone Marrow Platelet Function Decreased Platelets Have Decreased Alpha Granules Imbalanced Hemoglobin Chain Synthesis UROS Activity Decreased Mutation in the OTC Gene Plasma Asparagine High Caused by Mutation in the OFD1 Protein Gene Caused by Mutation in the Nyctalopin Gene (NYX) Stationary Night Blindness Abnormally Shaped Mitochondria in Subsarcolemmal Areas Axonal Motor Neuropathy Mutation in the HDAC8 Gene High Malar Bones Mutation in the HCFC1 Gene Mutation in the Bruton Tyrosine Kinase Gene Female Carriers May Have Mild Hearing Impairment Mutation in the POU Domain Class 3 Transcription Factor 4 Gene Angle of Nasal Bridge Decreased Leakage of Fluid if the Stapes is Disturbed Onset of Choroideremia in Second to Third Decade Wide Bulbous Internal Auditory Meatus NCV Normal Difficulty Walking on Heels Mutation in the ATP2B3 Gene Slow Eye Movements Dramatic Late Catch-Up Growth Occurs in Adolescence Striking Intrafamilial Variability Caused by Mutation in the Tafazzin Gene Nasal Quality to Speech Noncompaction of Left Ventricle Mild Organic Aciduria Spontaneous Abortions in Carrier Mothers Increased Death Usually in Infancy due to Respiratory Failure Dysmorphic Skull Bone Fractures - at Birth and Postnatal Denervation of Skeletal Muscles Neurogenic Atrophy Affecting both Fibers Types (Muscle Biopsy) Mutation in the Amelogenin Gene 'Snow Capped' Appearance of Teeth Normal Dentin Vertical Ridges on Enamel Rough Tooth Surface Wide Spacing between Teeth Hard Enamel Soft Enamel Hypomineralization of Enamel Severe Disability in Adulthood Levodopa Induces Mild Improvement of Motor Symptoms Affected Males Are Somatic Mosaic for Mutations Caused by Mutation in the WD Repeat-Containing Protein 45 Gene MRI Shows Iron Deposition in the Globus Pallidus and Substantia Nigra Intrafamilial Variability in Severity of Hypothyroidism Mutation in the IGSF1 Gene Average Height in Adulthood Delayed Growth Spurt in Puberty Enlarged Testicles in Adulthood Normal Testicular Volume in Childhood Testosterone Levels in Adulthood Normal Testosterone Increase in Puberty Delayed Repeated First-Trimester Abortions in Mothers Mutation in the Cytochrome C Oxidase Subunit VIIb Gene