Sitemap | Symptoma 20901 to 21000 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Joint Contractures (8%) Hyperextensible Joints (63%) Broad Nose (12%) Frontal Bossing (33%) Relative Macrocephaly (56%) Feeding Problems (43%) Overweight Later in Life Low Birth Weight Fine Motor or Coordination Problems (12%) Speech Delay (59%) Motor Development Delay Hypotonia (93%) Early Onset Puberty Mutation in the Homolog of the Drosophila Crumbs 2 Gene Dysinnervation of Various Cranial Nerves to Ocular Muscles Onset of Liver Involvement in Infancy Destruction of Bile Ducts Prominent Epithelial Luminal Budding Tubular Dilation Increased Echogenicity Onset of Malignancy Can Occur Throughout Life Onset of Thrombocytopenia in Early Childhood Mutation in the ETV Gene Susceptibility to Hematologic Malignancies Increased Mutation in the INS Gene Normal Response to Exogenously Administered Insulin Hyperproinsulinemia Variable Neuroradiologic Findings Microcephaly (up to 6 SD) Nodular Heterotopia of the Grey Matter Undersulcation of the Frontal Lobes Limb Hypertonia Premature Death May Occur Mutation in the WWOX Gene Lack of Visual Contact Disorganized Slow Background Activity Mitochondria with Abnormal Cristae Increased Proximal Muscle Weakness (Lower Limbs > Upper Limbs) Patients Need Support with Walking or Are Wheelchair Bound Mutation in the Ionotropic Glutamate Receptor Delta 2 Gene Tonic Upgaze Poor Overall Growth Mutation in the Homolog of the S Cerevisiae BRF1 Gene Prominent Alveolar Processes Bialveolar Protrusion Wave-Shaped Palpebral Fissures Microcephaly (2-3 SD) Pontine Hypoplasia Thin Corpus Callosum - Enlarged Ventricles Many Patients Require Cardiac Pacemakers Almost All Patients Require Total Parenteral Nutrition Onset of Symptoms in First or Second Decade of Life Mutation in the Shugoshin-Like Protein 1 Gene Mild Mitral Regurgitation Sclerotic Aortic Valve Left Atrial Dilation Junctional Escape Rhythm Hyperpigmented Skin Lesions C-Band Karyotype Shows 'Railroad Track' Appearance Fragmentation of Smooth Muscle Fiber Architecture Thinning of Smooth Muscle Layers Extensive Fibrosis in Smooth Muscle Layers Abundant T Cells in Smooth Muscle Layers Hypoplastic Ganglia in Enteric Nervous System Neurogenic and Myogenic Intestinal Pseudoobstruction Based on 3 Patients from 2 Families Mutation in the SPLRTN Gene Bilateral Palmar Simian Creases Urine Hyaluronic Acid Increased Structural Abnormalities Seen on Chromosome Analysis Mild Joint Restrictions of Fingers Bilateral Clinodactyly Sensitivity to Genotoxic Agents Early-Onset Hepatocellular Carcinoma Small Fronto-Temporal Diameter Mutation in the Glycogenin 1 Gene Inclusions Show Positive Immunostaining for SQSTM1 and Ubiquitin Myopathic Pattern Seen on EMG Distal Muscle Weakness Hyperintense Lesions in Thalamus, Basal Ganglia and Brain Stem (T2) Delayed Psychomotor Development - Variable Mutation in the Formin 2 Gene Age at Onset of Neurologic Features Variable Onset of Diabetes in Adolescence Demyelinating Sensorimotor Peripheral Neuropathy Mutation in the TUB Gene Peripheral Visual Field Severely Reduced Color Vision Disturbance in Protan, Deutan, and Tritan Axes Sparing of Macula White Dots Throughout Retina Fine Peripheral Pigmentary Mottling Widespread Atrophy of Retinal Pigment Epithelium Generalized Retinal Pallor Most Patients Become Wheelchair-Bound in Adolescence Onset between 6 and 14 Years Development of Pubic and Axillary Hair Delayed Lack of Breast Development No Visible Ovaries on Ultrasound Infantile Uterus on Ultrasound High Follicle-Stimulating Hormone Levels
