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Abscess Formation in Any Organ Recurrent Bacterial Infection Cellulitis due to Immunodeficiency Perirectal Abscesses due to Immunodeficiency Hepatic Abscesses due to Immunodeficiency Excessive Bleeding after Minor Trauma Partial Factor VIII Deficiency in Heterozygous Carriers Mutations in the F8 Gene Petechiae and Purpura Do Not Occur Common Ecchymoses Prothrombin Time Normal CRASH is an Acronym which Encompasses all L1CAM Diseases: Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Neonatal or Infant Death Most Common Form of Inherited Congenital Hydrocephalus Flexion Deformities of Thumbs (Adducted Thumbs) Susceptibility to Infections Starts in the First Week of Life Present but Small Tonsils Absent Antibody Production Severe Enteroviral Infections Delayed Onset of Puberty See Also Autosomal Dominant Hypophosphatemic Rickets Usually Men Have More Severe Disease than Women Mutation in the PHEX Gene 1,25-Dihydroxyvitamin D3 Normal to Low-Normal Parathyroid Hormone Normal to Mildly Increased Flattening of the Talar Dome Shortening of the Talar Neck Pseudofractures in Adults Anteroposterior Skull Length Increased Calcification of Entheses, More Common in Adults Osteoarthritis More Common in Adults Rickets in Children Recurrent Dental Abscesses Enlarged Pulp Chambers Defect in Dentin Maturation Mutation in the CRBN Gene No Autistic Features Mildly Delayed Developmental Milestones Square-Wave Jerks Onset in Second and Third Decades Fibrillations and Fasiculations (EMG) Progressive Gait Ataxia Later Onset of Ophthalmoparesis Onset of Sensory Ataxia in Early Adulthood Mutation in the POLG Gene Lactate Mildly Increased Upward Gaze Paresis Memory Difficulties Distal Sensory Impairment to Vibration and Proprioception Sensory Ataxic Neuropathy Atrophy or Degeneration Involving the Spinal Cord MRI Shows Cerebellar White Matter Lesions MRI: Bilateral Thalamic Lesions Ataxia Worsens in the Dark Night Blindness from Early Childhood Haploinsufficiency of GRN Most Common Subtype of Frontotemporal Dementia (600274) Mean Age of Onset Is 62 Years Mutation in the Granulin Gene Nonspecific Spongiform Degeneration Astrocytic Gliosis Cortical and Brainstem Neuronal Loss Parkinsonism (Late Symptom) Speech Hesitancy Progressive Language Deterioration Favorable Response to Alcohol Upper Limbs More Often Affected than Lower Limbs Recurrent Erosions Uncommon Foreign Body Sensation due to Erosions Deeper, Fusiform Lattice Deposits Develop Later Granular Deposits Replace Epithelial Basement Membrane Dystrophic Changes May be Present Biopsy Merosin-Positive Oblique Palpebral Fissures Allelic to Long QT Syndrome 1 Sella Turcica Enlarged Patellar and Ankle Clonus Lower Limb Weakness as Presenting Feature Mean Age of Onset 50.2 Years Neck Flexor Muscle Weakness Early Onset (at about Age 1 Year) Variable Degree of T Cell Dysfunction Normal T Cell Numbers Episodic Blurred Vision Episodic Scotomas Tortuous Retinal Arterioles Deep Hypointensities Suggestive of Past Microbleeds Clinically Resembles Spinal Muscular Atrophy Type 1 Onset Prenatally or at Birth EMG Shows Neurogenic Changes Loss of Anterior Horn Cells Abnormal Eyebrows Number of Eyelashes Reduced 'Chubby' Proximal Phalanges Fish-Like Mouth Inferior Ocular Cyst Usually Death Shortly after Birth due to Respiratory Failure Normal Lung Histology Respiratory Failure in Infancy Hemifacial Palsy