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

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) Hypertonia