24201 to 24300 most common queries

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

• Pulmonary Hypoplasia Associated with Diaphragmatic Hernia
• Giant Somatosensory Evoked Potentials
• Occasionally Generalized Tonic Clonic Seizures
• Mutation in the COL9A3 Gene
• Homozygous Phenotype Not More Severe
• Mutation in the ETS2 Repressor Factor Gene
• Mild Shortening of Digits
• Pansynostosis
• Coronal Synostosis
• Sagittal Synostosis
• Dental Malocclusion Class I
• Vertical Displacement of Nose
• Exorbitism (Major Feature)
• Prominent Forehead (Major Feature)
• Language Acquisition Difficulties
• Increased Intracranial Pressure Preoperatively
• Ascending Muscle Weakness (Beginning with Feet and Legs)
• Progressive Breathing Difficulty
• Frontal and Parietal Bossing
• Embryonal Rhabdosarcoma
• Mild Hyperactive Behavior
• Moderate Learning Difficulties
• Infantile Onset
• Posterior Subcapsular Lens Opacities
• Night Blindness - Onset in Teens
• Mutation in the RAB3GAP1 Gene
• Mutation in the Myosin VIIa Gene
• Most Patients Are Female
• Mutation in the ZC4H2 Gene
• Fat Pads on Hands and Feet
• Severe Muscle Weakness
• Mutation in the PLP1 Gene
• Periodic Apnea while Awake
• Progressive Vision Impairment
• Caused by Mutation in the Emerin Gene (EMD)
• Mutation in the IDS Gene
• Pebbly Skin Lesions on Back, Upper Arms and Thigh
• Pulmonary Hypoplasia
• Autistic Behavior
• Syndactyly of Toes 2-3
• Shortening of the Fifth Metacarpal
• Homocysteinemia
• Athetosis
• Asplenia and-or Polysplenia
• Muscle Wasting (Especially Legs and Arms)
• HHS: More Severe Variant, Often Death in Childhood
• Cerebellar Hypoplasia - HHS Variant
• Cerebellar Ataxia (in HHS Variant)
• Delayed Development (about 25%)
• Thick Wiry Hair
• Fifth Finger Clinodactyly
• Coronal Craniosynostosis
• Regenerative Nerve Sprouting
• Nerve Biopsy Shows Loss of Myelinated Fibers
• Spinocerebellar Ataxia
• Central Nervous System Involvement
• Male Fetal Demise
• Diastema of Incisors
• Female Carriers May Develop Mild Hearing Loss as Adults
• Prelingual Onset in Males
• Mutation in the COL4A6 Gene
• Incomplete Separation of the Cochlea from the Internal Auditory Canal
• Carrier Females Are Unaffected
• Caused by Mutation in the KIAA2022 Gene
• No Sphincter Control
• Stereotypical Hand Movements
• Poor or Absent Speech Acquisition
• Spasticity Occurs before Parkinsonism
• Some Response to L-Dopa Therapy
• Four-Repeat Tau-Plaques in the Striatum
• Onset in First Decades
• Auditory Brainstem Responses Decreased
• Axonal Sensorimotor Polyneuropathy
• Distal Sensory Impairment, Predominantly in Lower Limbs
• Abnormal Transferrin Pattern Tends to Improve with Age
• Males Carry Mutations in the Somatic Mosaic State
• Shortened Extremities
• Acute Nephrotic Syndrome
• aPPT Prolonged
• Abnormal Isoelectric Focusing of Serum Transferrin
• Swelling of Eyelids
• Swelling of the Hands and Feet
• Developmental Regression after Onset of Seizures
• Periodic Hyperpnea - Periodic Apnea
• Marked Thickening of Descemet Membrane
• Discontinuity and Degeneration of the Endothelial Cell Layer
• Endothelial Changes Resembling Lunar Craters
• Late Subepithelial Band Keratopathy
• Congenital Corneal Clouding
• Asymptomatic if Papillary Zone is Spared
• Mutation in the Delta Aminolevulinate Synthase 2 Gene
• Erythrocyte Zinc- and Metal-Free Protoporphyrin Increased
• Most Patients Become Ventilator Dependent
• Subtle Dysmorphic Facial Features
• Males Are More Severely Affected
• Large Appearing Eyes
• Autonomic Disturbances
• Thick Distal Phalanges
• Abnormal Liver Enzymes during Illness
• Non-Detectable Responses on Electroretinography