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Portal Fibrosis Hepatic Cytolysis Hepatic Involvement Microcystic Tubular Dilatations Mutation in the TTLL5 Gene Initial Disturbance of Central Vision Cone First Retinal Dystrophy Mutation in the DOCK7 Gene Large Nasal Root Occipital Lobe Atrophy Mild Pontine Hypoplasia Abnormally Marked Pontobulbar Sulcus Regression of Early Motor Skills Reported in Individuals of Jewish Moroccan Ancestry Mutation in the VPS53 Gene Lack of Developmental Milestones Low ADH Prolactin Decreased or Not Detectable Lack of Chilblain Lesions Alpha Interferon Activity Increased Hyperinflammatory State Lupus-Like Syndrome T2-Signal Abnormalities in the Deep White Matter Mutation in Zinc Finger MYND-Containing Protein 15 Gene Thickening of Tubular Membranes Follicle Stimulating Hormone Level Elevated Oligozoospermia Normal Testosterone Level May be Exacerbated by Febrile Illness Mutation in the LYRM7 Gene Isolated Mitochondrial Complex III Deficiency (Muscle Biopsy) White Matter Vacuolization Demyelinization Neurologic Decompensation Acute Encephalopathy Onset between 2 and 4 Years of Age Mutation in the Cysteine Rich Glutaredoxin 2 Gene Moderate to Severe Bilateral Sensorineural Hearing Loss Mutation in the NECAP1 Gene Brain Atrophy (MRI) Lack of Head Control Somatic Mutations Occur in Adrenal Tumor Tissue Bilateral Adrenal Adenomas All Reported Mutations Have Occurred De Novo Absent or Poor Expressive Speech Skin Syndactyly 2-3 Very Poor Expressive Speech Secondary Decreases in Complex I and IV Activity Mild Sensorineural Hearing Impairment Risk of Sudden Death due to Cardiac Arrhythmias Caused by Mutation in the Desmoplakin Gene Excessive Trabeculation in Right Ventricle Apical Aneurysm - Right Ventricle Fibrosis of Left Ventricle Biventricularly Decreased Contractility Biventricular Enlargement Brittle Nails Focal Keratoderma of Soles Striated Keratoderma of Palms Variable Tooth Agenesis Mutation in the KIAA1033 Gene Poor Fine Motor Skills Poor Adaptive Skills Neurologic Features Are Variable and Not Progressive Caused by Mutation in the Phosphoglucomutase-3 Gene Transferrin Glycosylation Normal Formation of Complex N Glycans Decreased UDP-GlcNAc Decreased Hyposialylation of O-Linked Serum Glycans Stimulation Increases Cytokines IL4, IL5, IL13, IL17 Abnormal Ratios of CD4+ Helper T Cells CD27+ B Cells Decreased Increased Susceptibility to Infections (Bacterial, Viral, Fungal) Oromotor Deficits Defective Myelination Risk of Sudden Death Early-Onset Myocardial Infarction Early-Onset Coronary Artery Stenosis Low Density Lipoprotein Borderline Elevated Body Mass Index Elevated Juvenile-Onset Central Obesity Mutation in the Adenosine Monophosphate Deaminase 2 Gene Poor Fixation Progressive Microcephaly (up to 9 SD) Defective Myelination of the Deep White Matter Fluid-Filled Posterior Cranial Fossa Absent Development Mutation in the DNA2 Gene Paraplegia Secondary to Spinal Cord Compression due to Severe Kyphosis Founder Effect in Turkish Families Flattened Nasal Root Mutation in the KRT13 Gene White, Spongy Plaques on the Pharyngeal Mucosa Orderly Appearance of Basal Cell Layer Narrow Intercellular Spaces between Vacuolated Cells Perinuclear Condensation Cell-within-a-Cell Appearance of Spinous Layer Basket-Weave Appearance of Spinous Layer Intracellular Edema of Spinous Layer Epithelial Thickening