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Talus Valgus Muscle Biopsy Shows Mitochondrial Aggregates Activity of Respiratory Complex I and III Decreased Respiratory Complex II + III Activity Decreased Cilia May Be Static with Slow Activity Mutation in the Aldolase A Fructose Bisphosphatase Gene Normal Red Cell Osmotic Fragility Long Halluces Proximal Implantation of Thumb Ultrastructural Neuronal Ceroid Lipofuscinosis in Only One Family Rectilinear Profiles in Cells (Ultrastructural Analysis) Granular Osmiophilic Cytoplasmic Deposits in Cells Mild Optic Atrophy Death Often in First Months of Life Profound Psychomotor Retardation in Those Who Survive Onset at Birth or in First Days of Life Dysmorphic Features Described in 1 Patient Reduced Activity of Mitochondrial Respiratory Chains Edematous Hands and Feet Mutation in the IRX5 Gene Small Patent Ductus Arteriosus Ectopic Finger Creases Thumb Deviation Worn-Out Teeth Thin or Hypoplastic Enamel Thin Upper Vermilion Border Pointed Nasal Tip Absence or Dysfunction of Nasolacrimal Structures Progressive Severe Myopia Severe Hypertelorism Mild Micrognathia Parotid Gland Dysfunction Bulging Midface Extra Frontal Hair Whorl Absent Gonad Activity Downturned Upper Lip High Nasal Bridge Ectodermal Symptoms Partial Deficiency of Factor XI Anterior Segment Mesenchymal Dysgenesis Congenital, Progressive, Posterior Polar Cataract Cataracts Usually Congenital Mutation in the Mitochondrial Ts Translation Elongation Factor Gene Concentric Hypertrophic Cardiomyopathy Abnormal Signals in the Thalami Seen on MRI Left Ventricular Involvement Woolly Hair Mild Palmoplantar Keratoderma Mutation in the KAT8 Regulatory NSL Complex Subunit 1 Gene Inability to Recognize Someone Familiar by the Face Alone Saccadic Ocular Pursuit Leg Weakness Lower Limb Muscle Atrophy Mild Distal Peripheral Sensory Loss Mild Cerebellar Signs Nyctalopia (Late Symptom) Onset in the First or Second Decades of Life Central Scotomata on Photopic and Dark Adapted Perimetry Testing Reduced and Delayed Cone Responses on Electroretinography Marked Macular Dysfunction on Electroretinography Mild Macular Atrophy Progressively Reduced Red-Green Color Vision Mild Horizontal Nystagmus Variable Astigmatism Progressive Reduced Central Vision Moderate to High Myopia Caused by Mutation in the DNA Polymerase Gamma 2 Gene Caused by Mutation in the Decorin Gene No Corneal Erosions Progressive Painless Visual Loss Congenital Progressive Corneal Stromal Opacification Oromotor Dyspraxia Irregular Folding of the Cortex Asymmetric or Symmetric Polymicrogyria Variable Malformations of Cortex Normal Scotopic Responses on Rod Electroretinogram Stationary Cone Degeneration Central Scotoma on Goldmann Visual Field Central Macular Atrophy Macular Granularity Founder Effect in Irish Travelers Glucocorticoid Deficiency Occurs in Mid-Childhood Growth Retardation Onset in Utero Mutation in the MCM4 Gene Cell Studies Show Increased DNA Breakage Susceptibility to Cancer Increased Mildly Delayed Cognitive Development Corticosteroid Deficiency Mutation in the CIB2 Gene Mutation in the DDHD1 Gene Axonal Neuropathy MRI Shows No Structural Brain Abnormalities Left Ventricular Ejection Fraction Decreased Subsarcolemmal Nemaline Bodies on Gomori Trichrome Staining Type 1 Fiber Atrophy Seen on Muscle Biopsy Type 1 Fiber Predominance Seen on Muscle Biopsy Increased Variability of Fiber Size Seen on Muscle Biopsy At Birth There Is Generalized Red Scaly Skin Variable Penetrance of These Features Vestibular Malformation Seen on Temporal Bone CT