Sitemap | Symptoma 25301 to 25400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Small Left Ventricle Enlarged Right Ventricle High Deoxypyridinoline - Creatinine Procollagen 1C Peptide Low Alkaline Phosphatase Normal to Slightly High Serpentine Thin Tibiae and Fibulae Movements of the Knee Joints Limited Bowing of Lower Extremity Long Bones Bowing of Long Bones in Upper Extremity S-Curve Scoliosis of Thoracic and Lumbar Spine Wormian Bones Prenatal Fractures Osteoporosis Borderline Bone Mineral Density Increased Faint Blue Sclera Wide Palpebral Fissures No Hearing Impairment Deformed Clavicles Delayed Gross Motor Development Mutation in the Ninein Gene Abnormal Carpal Bones Short Fifth Middle Phalanx Mild Lumbar Scoliosis Delayed Bone Age during Childhood Prepubertal Breast Development Small Uterus (Prepubertal Size) Insensitivity to Growth Hormone Therapy Borderline Central Hypothyroidism Follicle-Stimulating Hormone Normal Luteinizing Hormone Normal Cerebellar Vermis Hypoplasia JBTS Shows Autosomal Dominant Inheritance NPHP Shows Autosomal Recessive Inheritance Caused by Mutation in the Zinc Finger Protein 423 Gene Mutation in the RTTN Gene Mild Microcephaly Kidney Volume Decreased Diffuse Asymmetric Polymicrogyria Mutation in the GRM1 Gene Abduction Deficits Hypometric Saccades Brain Size Decreased Mild Pyramidal Signs Cerebellar Ataxia Gait and Stance Lack of Speech Development Most Patients Die within the First Year of Life Present in Infancy in all Affected Individuals No Other Ocular Defects Congenital Horizontal Pendular Nystagmus Mutation in the SMAD6 Gene Mutation in the SEPT12 Gene Oligoasthenozoospermia Asthenoteratozoospermia Teratozoospermia Spermatogenic Failure Most Cases due to De Novo Mutation Mutation in the ATP1A3 Gene Interictal Neurologic Impairment Autonomic Involvement Renal Failure in 3rd to 6th Decade Mutation in the FAN1 Gene Possibly Karyomegaly in other Visceral Organs Mild Chronic Inflammatory Infiltrate Cystic Dilation of Tubules Atrophic Tubules Hyperchromatic Nuclei Large Nuclei in Renal Tubules Seen Renal Biopsy Patients Do Not Have Ectopia Lentis Mutation in the TGFB2 Gene Fusiform Dilation and Tortuosity of Cerebrovascular Arteries Cerebrovascular Aneurysm Bicuspid Aortic Valve Broad or Bifid Uvula Mutation in the TCTN3 Gene Severe Kyphoscoliosis No Defects Reported Asymmetric Reductions of the Feet Asymmetric Shortening of the Hands Asymmetric Terminal Transverse Defects No Immune Defects Reported Sparse Hair after Puberty Short Tarsals Short Carpal Bones Short Long Bones of Hand Mild Irregular Metaphyseal Changes Thick Long Bones Short Long Bones Especially Femurs and Humeri Hypoplastic Pelvis and Sacrum Delayed Vertebral Body Ossification Variable Dental Anomalies Microcephaly in Adulthood Relative Macrocephaly in Childhood Prenatal-Onset Disproportionately Short Stature Underdeveloped Breasts Clitoral Hypoplasia or Aplasia Progression More Frequent in Men than Women Hematuria May Become Apparent after Respiratory Infections Mutation in the Complement Factor H Related Protein 5 Gene Segmental Capillary Wall Thickening Glomerular Cellularity Increased
