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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