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Bilateral Preauricular Fistulas Protruding Shoulders Periventricular White Matter Gliosis Moderate Developmental Delay Moderate Intellectual Disability Autoimmune Polychondritis Mildly Decreased Proliferative Responses of T Cells Autoantibodies (Antinuclear, Anti-dsDNA, Anti Cardiolipin) CD21+ B Cells Increased Memory B Cells Decreased CD19+ B Cells Decreased Heterozygotes Have Half Normal Levels of ApoB Containing Lipoproteins Mutation in the Apolipoprotein B Gene Caused by Mutation in the Prolactin Receptor Gene More than 3 Fibroadenomas in a Single Breast Seizure Onset between 3 and 11 Years Onset of Contractures in Utero Mutation in the Solute Carrier Family 35 Member 3 Gene Swan-Neck Deformities of the Distal Phalanges Deviation of the Distal Phalanges Dysplasia of the Acetabulae Episodes Tend to Decrease with Age Pain Tends to Occur Later in the Day Pain Is Relieved by Antiinflammatory Medication Pain is Noted as Cold Hyperhidrosis during Pain Episodes Possibly Erythema during Episodes Decreased Intraepidermal Nerve Fiber Density Seen on Skin Biopsy Reduced or Absent Erythroid Precursors in Bone Marrow Erythrocyte Adenosine Deaminase Activity Elevated Slowly Healing Wounds due to Painless Injuries Inability to Feel Pain Caused by Mutation in the Mage-Like 2 Gene Hyperphagia, Later Excessive Weight Gain after Neonatal Period Speech Articulation Defects Right Ventricular Hypokinesis Mild Right Ventricular Dilation Anti-Mullerian Hormone Levels Low Benign Hypervascularized Thyroid Nodules Albuginea Perforation Disjunction between Epididymis and Testis Testicular Calcifications Bilateral Inguinal Hernia Containing Gonads Hypoplasia of Corpus Cavernosum Labioscrotal Folds Fused Mutation in the TTI2 Gene Circulating Naive T Cells Decreased Onset in First Decade Progressive Sensorineural Hearing Loss Affecting High Frequencies Tent-Shaped Lips Mild Generalized Cerebral Atrophy Few Inflammatory-Cell Infiltrates Slight Hyperkeratosis Elongation and Thinning of Rete Ridges Epidermal Thinning Pigmentation in Tip of Rete Ridges Plantar Keratoderma Palmoplantar Pits Breaks in Epidermal Ridges of Palms and Fingers Onset of Parkinsonism in Early Twenties Mutation in the SYNJ1 Gene Chin Tremor Jerky Saccades Staring Gaze Brain MRI Shows Cortical Atrophy Patients Become Wheelchair-Bound About 10 Years after Onset Onset of Parkinsonism in First Decade Mutation in the DNAJ-HSP40 Homolog Subfamily C Member 6 Gene Seborrheic Dermatitis in Infancy Immunologic Evaluation Unremarkable Macrocheilitis Mutation in the Beta Retinoic Acid Receptor Pulmonary Trunk Enlarged Hypoplastic Left Atrium Intrafamilial Variability in Severity Twelve or More Lesions per Eye in Individuals Over 60 Years of Age Unilateral or Bilateral Central Guttae Skin Lesions Manifest in the First Year of Life Mutation in the ENPP1 Gene Few Melanosomes in Keratinocytes Melanosomes in Cytoplasm and Dendrites of Melanocytes Increased Small Deposits of Calcium in Papillary Dermis Normal Number of Melanocytes Melanin Content in Melanocytes Normal Melanin Content of Keratinocytes Decreased Hypopigmented Macules Primarily on Extremities Calcific Tendinopathy of Heels Calcific Tendinopathy of Wrists Calcific Tendinopathy of Shoulders Calcific Tendinopathy of Hips Splenic Calcification Microcalcifications on Mammography Early-Onset Calcific Tendinopathy Mutation in the Homolog of C Elegans UNC119 Gene Partial Loss of Nails Persistent Severe Fungal Infections of Fingernails and Toenails Recurrent Shingles Normal Response to Bacterial Antigens IgA, IgG, and IgM Normal