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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)