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Adult-Onset Pigmented Macular Degeneration Polymorphic B Cell Lymphoproliferation Exocrine Pancreatic Function Normal Nasal Potential Difference Increased Sweat Chloride Elevated Low-Set Columella V-Shaped Nasal Tip Occipital Cutis Aplasia Slender Habitus Cytogenetic Deletion of Chromosome 19q13 Little or No Speech Acquisition Hepatic Glycogen Accumulation Clinical and Biochemical Abnormalities Improve with Age Mutation in the PHKG2 Gene Growth Retardation in Childhood Moderately Decreased to Normal PHK Activity in Skeletal Muscle PHK Activity in Liver Decreased Motor Development Mildly Delayed Macroglossia - Untreated Hypothyroidism Short Nose with Anteverted Nostrils Mutation in the POU1F1 Gene Severe Growth Retardation in Infancy Short Stature if Untreated Prolactin Low or Not Detectable Thyroid Stimulating Hormone Low or Absent Growth Hormone Decreased or Absent Open Fontanelles - Untreated Hypothyroidism Open Sutures (Untreated Hypothyroidism) Hypotonia (untreated Hypothyroidism) Hypoplasia of Anterior or Entire Pituitary Gland Treatment and Prophylaxis with Oral Folic Acid Onset beyond the Second Year of Life Mutation in the Adult Folate Receptor 1 Gene Cerebrospinal Fluid Methyltetrahydrofolate Decreased Severe Developmental Regression No mtDNA Depletion Proliferation of Bile Ductules Oncocytic Changes Minimal Inflammation Variable Portal and Sinusoidal Fibrosis during Acute Episode Liver Size Returns to Normal after 3 Months to 3 Years Liver Functions Return to Normal after 3 to 4 Months Clinical Improvement after 2 to 3 Weeks of Supportive Care Onset at Day 1 of Life Has Been Reported Onset Usually at 2 to 6 Months of Age Pale, Gray Skin Coagulopathy Secondary to Liver Failure Sweat Chloride Normal Allelic to Early-Onset Familial Alzheimer Disease Mutation in the Matrin 3 Gene Susceptibility Conferred by Mutation in the Alpha 2 Macroglobulin Gene Mutation in the APP Gene Variable Expressivity in Families 40% of Patients Have Associated Abnormalities Age at Diagnosis 2-4 Months Caused by Mutation in the Ribosomal Protein S19 Gene Myeloid to Erythroid Ratio Increased - 10:1 to 200:1 Presence of Erythrocyte Antigen 1 Mild Neutropenia Mild Radial Hypoplasia Phenotypic Overlap with FHM1 and SCA6 Most Common Episodic Ataxia Syndrome Yellow-Orange Colored Skin Conversion of Beta-Carotene to Vitamin A Decreased Vitamin A Decreased β-Carotene Increased Boys Are more Often Affected than Girls Seizures Usually Remit in Adolescence Gurgling or Drooling during Seizures Speaking Difficulties during Seizures Seizures Affect the Vocal Cords, Lips, Mouth and Face 2.5-3.8 kb Insertion within an Intron of the BEAN Gene Some Families Have Axonal CMT (CMT2M) Individuals with Normal NCV Values Have Axonal CMT (CMT2M) Attacks Non-Responsive to Acetazolamide Attacks Typically Last for Minutes Wide Range of Onset from Childhood to Adult Mutation in the ITPR1 Gene Patients May Become Wheelchair-Bound Mean Age at Onset 24 Years Demyelinating Motor and Sensory Neuropathy Mutation in the LTBP3 Gene Bone Density in Spine Increased Increased Bone Density at Bottom of Skull Alveolar Bone Absent Where Teeth Are Missing Mutation in the PRPH2 Gene Incidental Laboratory Finding, No Clinical Symptoms Mutation in the TUBB1 Gene Beta Tubulin in Platelets Decreased Large Spherical Platelets Macrothrombocytopenia Ankylosis of Deciduous Teeth Lack of Response to Orthodontic Force Often Unilateral, Rarely Symmetric Male to Female Ratio Increased Favorable Response to BH4 Cerebrospinal Fluid 5-HIAA May Be Normal or Decreased Cerebrospinal Fluid Tetrahydrobiopterin Decreased Some Patients Show Improvement during Summer or with Fever Possibly Death in Infancy due to Sepsis