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Allelic to Bardet-Biedl Syndrome Type 6 Canalicular Cholestasis Mutation in the Hereditary Hemochromatosis Gene Duplication or Triplication of Phalanges Infectious Dermatitis due to Immunodeficiency Autosomal Recessive Cytochrome B-Positive CGD Type 2 Autosomal Recessive Cytochrome B-Positive CGD Type 1 Mutation in the G6PC Gene Mutation in the GCDH Gene Striatal Necrosis Frontotemporal Atrophy Mutation in the ADAMTS-Like Protein 2 Gene Poorly Formed Ears Reduced Retinal Nerve Fiber Layer Thickness Caused by Mutation in the Coagulation Factor X Gene Russell's Viper Venom Assay: Prolonged or Normal Mutation in the COL7A1 Gene Possibly Milder, Non-Progressive Phenotype Based on One Report of Brother and Sister Hepatic Duct Hypoplasia Progressive or Intermittent Jaundice Dysmyelination of Brain and Spinal Cord Mutation Carriers May Show Toxicity to 5-Fluorouracil Mutation in the Dihydropyrimidinase Gene Thymine and Dihydrothymine in Bodily Fluids Increased Body Fluid Uracil and Dihydrouracil Increased Hypoplastic Phalanges Low Anal Atresia Extrapyramidal Dyskinesias Bone Cysts in Phalangeal, Metatarsal, and Tarsal Bones Bone Cysts in Phalangeal, Metacarpal, and Carpal Bones Mutation in the Chromosome 2 Open Reading Frame 64 Gene Echogenic Kidneys with Thick-Walled Pelvises Caused by Mutation in the Complement Component 2 Gene Dumbbell-Shaped Femurs in Newborns Electrolyte Imbalances Can Mimic Renal Bartter Syndrome Onset in First Weeks to Months of Life Mutation in the SLC26A3 Gene Hypotension due to Volume Depletion Plasma Renin Activity Increased Diarrhea Contains High Chloride Levels Overlapping Toes Lactate Increased - Particularly after Exercise ANT1 Protein in Muscle Tissue Decreased Abnormal Mitochondria with Loss of Cristae Defective Mitochondrial Oxidative Phosphorylation of Multiple Enzymes Mutation in the CARD9 Gene Variable Manifestations Death Usually due to Respiratory Failure Earlier Onset Is Associated with More Rapid Progression Soft Voice due to Vocal Cord Paralysis Increased Susceptibility to Respiratory Infections Truncal and Appendicular Hypotonia Proximal and Distal Muscle Weakness Twitching of the Fingers and Toes Lower Motor Signs Spinal Neuropathy All Cases from the Remote Village Sabinas in Northern Mexico Hypotrichosis Present at Infancy Axillary and Pubic Postpubertal Hypotrichosis Onset in Childhood or 2nd Decade Mutation in the ABHD12 Gene Myocyte Hypertrophy Anemia May Show Onset in Infancy Mutation in the SLC2A1 Gene Erythrocytes Have Defects in Cation Permeability Bilirubin Increased due to Hemolysis Exercise-Induced Limb Dystonia Exertion-Induced Limb Dyskinesia Mutation in the Homeobox 1 Gene Morning Glory-Like Dysplastic Macropapillae Chorioretinal Atrophic Lacunae Abnormal Bridge Connecting the Crus of the Helix and Antihelix Narrow Intertragic Notch Lobular Aplasia Mutation in the RNA Binding Motif Protein 28 Gene 1.61 and 1.76 Mb Microduplication of 3q29 Caused by Mutation in the MKS1 Gene Mutation in the BBS12 Gene Mutation in the BBS10 Gene Mutation in the Parathyroid Hormone Responsive B1 Gene Mutation in the ARL6 Gene Caused by Mutation in the Nephrocystin 3 Gene Mutation in the AGA Gene Elevated Serum Glutamic Pyruvic Transaminase (SGPT) Intermittent Dicarbonic Aciduria Intermittent Ethylmalonic Aciduria Intermittent 3-Methylglutaconic Aciduria Mitochondrial Respiratory Chain Complex Activity Decreased Hair Growth Delayed Caused by Mutation in the HPS6 Gene Caused by Mutation in the HPS5 Gene Caused by Mutation in the HPS4 Gene Mutation in the HPS3 Gene Caused by Mutation in the Adaptin, Beta-3A Gene Caused by Mutation in the HPS1 Gene (HPS1) Mutation in the TYRP1 Gene Mutation in the ACADM Gene Marked Micromelic Dwarfism Overlapping Features with Barber-Say Syndrome