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Mutation in the SIX3 Gene Blind-Ending Proboscis Varying Degrees of Doubling of Intrinsic Ocular Structures Premaxillary Agenesis Hypophyseal Agenesis Endocrine Dysgenesis Vertical Talipes Forearm Supination Decreased Shortening of Various Muscle-Tendon Groups in Feet Shortening of Various Muscle-Tendon Groups in Legs Shortening of Flexor Profundus Muscle Tendon Unit Long Chin Deep Philtrum Mild Joint Contractures with Sparing of the Elbows Enlargement of Type I Muscle Fibers Consistent with Denervation Mutation in the Myogenic Factor 6 Gene Possibly Negative Repeat Expansion (5%) Congenital - Over 2 000 Repeats Adult-Onset: 100-1,000 Repeats Mildly Affected - 50-150 Repeats Genetic Anticipation Occurs Loss of Hypocretin Secreting Neurons in the Hypothalamus Mean Sleep Latency is Less than 5-8 Minutes Rarely Adult Onset Death in Childhood Often Results from Respiratory Insufficiency Caused by Mutation in the Alpha-Actin-1 Gene Severe Form: No Spontaneous Activity at Birth Tent-Shaped Mouth Severe Form May Never Achieve Sitting or Walking Onset Usually in First to Third Decade of Life Skin Folds or Creases (Neck or Forearm) Skin Folds or Creases Dorsally Rotated Ears Focal Paresis Sensory Deficits Muscle Atrophy Usually Following Neuropathy Muscle Weakness Usually Following Neuropathy Acute Recurrent Episodes of Brachial Plexus Neuropathy Rate of Miscarriage in Affected Individuals Increased Subcutaneous Bleeding Mutation in the CA8 Gene Umbilical Bleeding after Birth Frequent Association of Factor XIIIA Deficiency - Factor XIIIB Deficiency Caused by Mutation in the Tuberin Gene (TSC2 191092-0001) Both Homozygous and Heterozygous EDN3 Mutations Have Been Found Bright Blue Irides Variable Intrafamilial Severity Mutation in the 45 kD Receptor Associated Protein of the Synapse Congenital Myasthenic Syndrome Mutation in the Phosphodiesterase 8B Gene Autosomal Recessive Disorder Tends to Be More Severe Independent Walking May Not Be Achieved Deletion of 1.5 Mb on 3q29 Encompassing 22 Genes Caused by Deletion of at Least 600 kb in 10q26.2 Normal Retinal and Pupillary Reflexes between Episodes Absent Pupillary Reflexes during Blindness Episodes Transient Blindness Lasting 3 to 10 Seconds Elicited Repetitive Daily Blindness Blindness Episodes Are Not Associated with FHM Episodes Mutation in the CSF3R Gene Segmented Neutrophils or Band Cells Account for More than 70% Partial Factor XIII Deficiency Partial Factor XII Deficiency Partial Deficiency of Factor XI-c Dual Jerk Waveforms Asymmetric Pendular Movements Pale Blue Sclerae Severe Vision Loss Beginning in Childhood Coloboma Is Associated with Larger Microdeletion - 490 kb - of 11q13 Contiguous Gene Deletion Syndrome due to Microdeletion of 11q13 Microdeletion of Chromosome 11q13 Variable Absence of Teeth Tooth Enamel Defect Double Pulp Chambers Full-Cheek Appearance TDP43-Positive Inclusions VCP-Positive Inclusions Alcohol May Alleviate Symptoms Transient Neonatal Hypotonia Central Hypoventilation (Late in Disease, Often Fatal) Onset in Fourth to Fifth Decade Mutation in the CACNA1SGene Abdominal Distention due to Mass Effect of Liver Caused by Mutation in the Collagen Type 4 Alpha-1 Gene Microbleeds Mutation in the Pulmonary Associated Surfactant Protein A2 Gene Severe Pulmonary Hypertension in End Stage Disease Adenocarcinoma of the Lung Honeycomb Fibrosis (Age at Onset and Location Variable) Pulmonary Fibrosis with Fibroblast Foci (Histology) Mutation in the Tubulin Beta 2B Gene Neuronal Migration Defect Frontotemporoparietal Cortical Dysplasia Sinoatrial and Atrioventricular Progressive Conduction Disease Extra Ossicles Duplicated Base of Metatarsal II Short or Absent Middle Phalanges Brachydactyly (More Severe Than in Hands) Proximal Weakness Upper Extremities Mutation in the Phospholipase A2 Group VI Gene