33901 to 34000 most common queries

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

• Upper Limbs May Show Mild Involvement
• Most Patients Need Assistance Walking or Are Wheelchair Bound
• Atrophy of the Lower Limbs
• Highly Variable Severity
• Arachnoid Cysts of the Cerebellopontine Angle
• Deficits in Abstraction
• Deficits in Language Expression
• Unilaterally Thin Zygomatic Arch
• Orbital Diameter Unilaterally Decreased
• Narrow Unilateral Palpebral Fissure
• IQ Decreased
• Onset after Third Decade
• Mutation in the VAPB Gene
• Dopa-Responsive Rigidity
• Abnormal Nerve Conduction
• Spinal Tract Degeneration
• Age of Onset 20-65 Years
• Vestibuloocular Reflex Abnormal
• Sensory Neuropathy (Less Prominent Feature)
• High Prevalence in Holguin Province of Cuba
• May Manifest as 'Ataxic' Phenotype without Parkinsonian Features
• Extreme Phenotypic Variability
• Rarely Reported in Infants
• Mean Age of Onset in Third Decade
• Expanded CAG Trinucleotide Repeats in the Ataxin 2 Gene
• Posterior Column Degeneration
• Dopamine-Responsive Parkinsonism
• Fasciculation-Like Movements
• Action and Postural Tremor
• Epiphyseal Irregularity
• Rhizomelia (Upper Extremities Greater than Lower Extremities)
• Anterior Vertebral Height Increased
• Gonadal Mosaicism Reported
• Absent Talus and Calcaneal Ossification in Infancy
• Diminished Joint Mobility at Elbows Knees and Hips
• Final Adult Height: 84-128 cm
• Mutation in the Collagen II Alpha 1 Polypeptide Gene
• Dappling Greater in Ulna than Radius and Fibula Greater than Tibia
• Club-Shaped Proximal Femurs
• Irregular, Sclerotic Metaphyses
• Generalized Epiphyseal Delay (Infancy)
• Delayed Pubic Bone Ossification
• Dwarfism - Short Trunk, Short-Limbed
• Severe Metaphyseal Changes of Long Bones
• Distal Ulnar Shortening
• Small Sacroiliac Notches
• Bucket-Handle Fractures
• Metaphyseal Corner Fractures of Long Tubular Bones
• Developmental (Progressive) Coxa Vara
• Possible Gonadal Mosaicism in One Report
• Abnormal Electrophoretic Mobility of Collagen Type II
• 'Banana Peel' Configuration of Distal Radius
• Broad Cupped Metaphyses
• Small Sciatic Notch
• Mutations in the Homolog of the Mouse Noggin Gene
• Onset between First and Second Decade
• Early-Onset Severe Scoliosis
• Large Cytoplasmic Schwann Cell Extensions around Axons
• Basal Lamina 'Onion Bulb' Formation
• Usually Asymptomatic
• Adult Onset (Wide Range of Age)
• Dry Palmar Skin
• Pseudoepiphyses
• Accentuated Palmar Creases
• Thin Tapering Fingers
• Small, Flat, Irregularly Ossified Epiphyses
• Mildly Flared, Irregular Metaphyses
• Short Broad Femoral Necks
• Wide Gap between Upper and Lower Central Incisors
• Pointed Lower Central Incisors
• Oligodontia (Reduced Number of Molars and Premolars)
• Mutation in the SLC12A1 Gene
• Low to Normal Blood Pressure
• Occasionally Hypomagnesemia
• Mutation in the TNNI2 Gene
• Hypoplastic or Absent Interphalangeal Creases
• Overriding Fingers
• Severe Camptodactyly
• Prominent Nasolabial Folds
• Attached Ear Lobules
• Small Prominent Chin
• Death in the Mid Twenties
• Onset 5 to 7 Years
• Pericardial Agenesis
• Isochromosome Often Missing in Lymphocyte
• Mosaic Tetrasomy 12p in Skin Fibroblasts
• Distal Digital Hypoplasia
• Mesomelic or Rhizomelic Limb Shortening
• Contractures Develop with Age
• Sacral Appendage
• 'Cupid-Bow' Lip
• Protruding Lobules
• Coarse Facial Features Over Time
• Normal to Increased Head Circumference
• Birth Weight Normal to Increased
• Postnatal Deceleration of Length
• Birth Length Normal to Increased
• Absent Upper Vagina
• Persistence of Urogenital Sinus - Cloaca
• Contractures (Older Children and Adolescents)