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Generalized Follicular Keratosis Severe Comedogenic Acne Photopic Responses Reduced (ERG) Foveal Reflex Absent Irregular Macular Reflex Prominent Optic Disc with Irregular Capillaries Attenuation of Retinal Arterioles Bone Spicule Pigmentation of Retina Progressive Retinal Dystrophy Nuclear Sclerotic Cataract Inferior Displacement of Pupil Coloboma of the Iris Inferior Night Vision Decreased - Childhood Onset Total Coloboma Involving the Macula Anomalous Optic Discs Bilateral Entropion Severe Respiratory Insufficiency due to Muscle Weakness Generalized Dystonia in Some Cases Usually Focal or Segmental Dystonia Average Age at Onset 31 Years Mutation in the GNAL Gene Clubfoot in 2/3 Sibs Third to Fifth Metatarsals Less Shortened Shortening of First Metatarsal Less Shortened Third to Fifth Metacarpals Shortening of First Metacarpal Shortening of First Distal Phalanx Shortening of Middle Phalanges of Digits 2-5 Normally Developed Fibula Truncated Ulnar Styloid Process Short Stature (5th-10th Percentile) Relative Sparing of Index Finger Relative Sparing of Upper Extremities Central Tongue Atrophy Pseudoexophthalmos Fetal Movements Diminished Decreased Muscle Mass (Especially in Lower Extremities) Mutation in the UBE3B Gene Anomalies of Cholesterol Levels Mild Strabismus Gastrectasia Double Right Kidney Partially Empty Sella Turcica Size of Pituitary Gland Decreased Agenesis of the Rostrum of Corpus Callosum Onset in Mid-Adulthood Secondary Myopathic Changes Biopsy Shows Signs of Denervation Mild Muscle Atrophy Respiratory Distress at Birth Episodes Are Followed by Exhaustion and Sleep Episodes Are Triggered by Hunger, Fatigue, Cold, Stress Episodes Last about 1.5 Hours Mutation in the TRPA1 Gene Tachycardia during Pain Episodes Breathing Difficulties with Episodic Pain Pain Affects Upper Body Episodic Pain Mutation in the Chromosome 12 Open Reading Frame 65 Gene Arthrogryposis of the Small Joints Distal Muscle Weakness Predominantly Affecting the Lower Limbs Distal Muscle Atrophy Predominantly Affecting the Lower Limbs Average Age at Onset is 24 Years Mutation in the ANO3 Gene Laryngeal Tremor Dystonic Posturing of the Upper Limb Onset of Spasticity by Age 2 Years Caused by Mutation in the DDHD Domain-Containing Protein 2 Gene Spinal Cord Syrinx Abnormal Lipid Peak on Brain MRS Central Episodic Apnea Onset in the first Decade Mutation in the CYP2U1 Gene White Matter Abnormalities Dystonic Posturing Upper Limb Hyperreflexia Caused by Mutation in the Gene Encoding Exophilin 5 Vesicles Clustered near Plasma Membrane Number of Perinuclear Vesicles Increased Aggregated Intermediate Filaments Basement Membrane-Keratinocyte Disruption within Lower Epidermis Irregular, Ruffled or Jagged Dermal-Epidermal Junction Mild Acanthosis Moderate Residual Postinflammatory Hyperpigmentation Residual Slightly Atrophic Scarring Intermittent Skin Blistering Large Brownish Scales on Lower Extremities Chronic Thrombotic Microangiopathy Waxy Appearance of Optic Disc Non-Reactive Deep and Superficial Elastosis Hyperpigmented Rim with Long, Fine Hairs Encircling the Lesions Polypoid Lesions of Buccal Mucosa - 1-2 cm in Diameter Congenital Bilateral Vesicular Lesions between Ear and Corner of Mouth Mutation in the ABCB4 Gene Cerebral Lactate Increased Myeloid Proliferation Variable Deficit of Tissue Macrophages Lack of Circulating Dendritic Cells Lack of Circulating Monocytes Breathing Difficulties in the Neonatal Period