30601 to 30700 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• 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