38501 to 38600 most common queries

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

• Limited Jaw Opening
• 'Whistling' Appearance
• H- or V-Shaped Chin Dimple
• Urine Copper High
• Non-Ceruloplasmin-Bound Copper High
• Liver Copper High
• Mixed Demyelinating and Axonal Polyneuropathy
• Atlantoaxial Subluxation
• Xanthine Urolithiasis
• Light Fine Hair
• Migratory Ichthyosiform Dermatosis
• Broad Second Toes
• Thickened Soles
• Clinodactyly and/or Camptodactyly of 5th Finger
• Thickened Palms
• Flattened Occiput
• Bifid Incisor
• Birth Length > 90th Percentile
• Mutations in the MID1 Gene
• Nasal Tip Groove
• Often Confused with Tuberous Sclerosis (191000)
• Prenatal or Perinatal Lethality in Hemizygous Males
• Caused by Mutation in the Filamin A Gene
• Strokes due to Coagulopathy
• Refractory Seizures
• Mutation in the AR Gene
• Luxuriant Scalp Hair
• Plasma Follicle Stimulating Hormone Elevated
• Plasma Luteinizing Hormone Elevated
• Plasma Testosterone Normal-Elevated
• Normal Male Karyotype (46,XY)
• Female Body Fat Distribution
• Female Body Habitus
• Tall for Females (Mean Height 171-5 cm)
• Blind Vagina
• Abdominal, Inguinal or Labial Testes
• Hypoplasia or Normal Development of Clitoris
• Underdeveloped Labia
• Female External Genitalia in Males
• Proximal, Slowly Progressive Muscle Weakness
• Dwarfism Not Detectable at Birth
• Pectus Carinatum Present in Obligate Carrier Mothers
• Short Broad Metacarpals and Phalanges
• Cone-Shaped Epiphyses of Distal Radii
• Underossified Epiphyses
• Prominent Ulnar Styloid Process
• Disproportionately Long Fibulae
• Long Ulna
• Short Broad Long Bone Diaphyses
• Moderate Limitation of Elbow Extension
• Hypoplastic Iliac Bone
• Narrow Pelvis
• Wedge-Shaped 11th or 12th Thoracic Vertebrae
• Anterior Vertebral Tongue
• Mild Odontoid Hypoplasia
• Mild Maxillary Hypoplasia
• Severe Short-Trunked Dwarfism
• Mutation in the IL1RAPL Gene
• Finger Twitching
• Mean Age of Onset 35-40 Years
• Striatal Atrophy
• Rare Segmental Demyelination and Remyelination
• Rapid Disease Progression at Age 40-50 Years
• Onset in Second Decade
• 'Onion Bulb' Formations
• Aortic Aneurysms (Ascending Aorta or Aortic Arch)
• Moya-Moya Phenomenon
• Supraumbilical Abdominal Raphe
• Sternal Pits
• Sternal Clefting
• Cerebral Infarction Dandy Walker Malformation
• Migraine Headaches Ipsilateral to Facial Hemangioma
• Homozygous 122 kb Deletion 11p15-p14
• Generalized Aminoaciduria
• Age of Onset 30 to 60 Years
• Inability to Suppress Vestibuloocular Reflex
• Response to Acetazolamide
• Mutation in the HSPB1 Gene
• Chronic Axonal Neuropathy (Sural Nerve Biopsy)
• White Matter Abnormalities on MRI
• Most Patients Remain Ambulatory
• Very Slow Progression
• Inborn Error of the Pyrimidine Degradation Pathway
• Caused by Mutation in the Beta-Ureidopropionase Gene
• Plasma, CSF and Urinary Dihydrothymine Increased
• Plasma, Liquor and Urine Dihydrouracil Increased
• Urine Dihydropyrimidines Increased
• Severe Psychomotor Development Delay
• Mean Duration of Symptoms: 4.2±2.4 Years
• Mutations in the Prion Protein Gene
• PrP-Immunoreactivity Limited to Cerebellum and Putamen
• Minimal Gliosis
• No Neurofibrillary Tangles
• No Amyloid Plaques
• Rapidly Progressive Dementia
• Rapidly Progressive - 6 to 24 Months
• Average Age of Onset 13 Years
• Caused by Mutation in the ATPase Type 13A2 Gene
• Atrophy of Pyramids
• Mild Paraparesis