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Cone Implicit Times Consistent with Progressive Disease Tritan Color Vision Deficits Bone-Spicule Pigment Clumping Death in First Weeks of Life Mitochondrial Complex V Assembly Decreased Mitochondrial Complex V Activity in Fibroblasts Decreased Small Renal Cysts Lipid Droplets (Muscle Biopsy) Brainstem Damage Pons Damage Cystic White Matter Degeneration Tonus Dysregulation Abnormal Primitive Reflexes Mutation in the Zinc Finger Protein 141 Gene Well-Formed Fifth Toe Duplication Small Central Phalanx of Fifth Finger Duplicated Distal Phalanx of 5th Finger Broad Fifth Finger Fifth Finger Duplication Well-Formed Raspy Voice <son Epithelial Dyskeratosis of Vocal Cords Pruritic Hyperkeratotic Scars Finger Joint Hypermobility Alveolitis Leading to Tooth Loss Stromal Inflammatory Infiltrate Bowman Membrane Absent Dyskeratotic Keratinization Corneal Dyskeratosis Maxillary Decalcification Migraine with or without Aura Broad Metatarsal Bones Broad Interphalangeal Joints Flattened Humeral Head Flattened Epiphysis of the Lower Tibia Metaphyseal Irregularity of the Upper Tibia Irregular Shallow Acetabular Roofs Ratio Femoral Head Diameter:LTCHD Reduced Broad Femoral Neck - Mild Limited Extension of Elbow Joints Shoulder Joints Elevated Irregular Surface of Iliac Spine Posterior Double Humps of Vertebral Body Marked Bilateral Angulation of the Proximal Femur Shortening of Upper Extremities Bowing of Upper Extremities Multiple Fractures of Extremities Lack of Bone Modeling Closed-Lip Schizencephaly Hypoplasia of the Hypothalamus Hypoplasia of the Optic Chiasm Small Anterior Commissure Hypoplasia of the Mesencephalic Tectum Congenital Absence of the Vermis Unilateral Cerebellar Hypoplasia Mutation in the MPDZ Gene Simplified Gyration Pattern Head-Eye-Lag Impaired Ocular Movements Distal Muscle Weakness - Predominantly Lower Limbs Distal Muscle Atrophy - Predominantly Lower Limbs Normal T Cells Arrest of B-Cell Development at Very Early Stage Recurrent Gastroenteritis Mutation in the IL21R Gene Cytokine Defects Defective IL21R-Related Signaling Increased IgE - Impaired NK-Cell Activity B Cell Class Switching Impaired Normal Numbers of Lymphocytes and NK Cells Mutation in the Caspase Recruitment Domain Containing Protein 11 Gene Defective Intracellular Signaling in Lymphocytes Effector T Cells Decreased Regulatory T Cells Decreased Differentiated B Cells Decreased Transitional B Cells Increased Normal Numbers of T and B Cells Most Patients Have No Bleeding Abnormalities Mutation in the Alpha 1 Actinin Gene Mutation in the Regulator of Telomere Elongation Helicase 1 Gene No Abnormal Skin Pigmentation Immunodeficiency Primarily Affecting B Cell Line Mutation in the Gamma B Crystallin Gene Later Onset in Females Onset around Adolescence in Males Variable Nerve Conduction Velocities Gradual Visual Impairment Mitochondrial Complex III Activity Decreased Large Consanguineous Israeli Bedouin Kindred Mutation in the UQCRQ Gene Onset in Late Infancy Mutation in the Ubiquinol Cytochrome C Reductase Protein Gene Lactate Increased during Metabolic Crisis Severe Neurodegenerative Course Resulting in a Comatose State or Death Rapidly Progressive Episodes Onset: Late Infancy to Adulthood Mutation in the Tetratricopeptide Repeat Domain 19 Gene Mitochondrial Complex III Activity in Muscle Decreased Cognitive Regression Patients Have Normal Levels of Vitamin A, Beta Carotene and Zinc Mutation in the Retinol Binding Protein 4 Gene