Question: What are the symptoms of Marinesco-Sjogren syndrome ?
Answer: What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Short stature 90% Strabismus 90% Abnormality of movement 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Hypertonia 50% Muscle weakness 50% Nystagmus 50% Pectus carinatum 50% Scoliosis 50% Skeletal muscle atrophy 50% Talipes 50% Microcephaly 7.5% Optic atrophy 7.5% Peripheral neuropathy 7.5% Autosomal recessive inheritance - Centrally nucleated skeletal muscle fibers - Cerebellar cortical atrophy - Congenital cataract - Coxa valga - Cubitus valgus - Dysarthria - Elevated serum creatine phosphokinase - Failure to thrive - Flexion contracture - Gait ataxia - Hypergonadotropic hypogonadism - Infantile onset - Intellectual disability - Kyphosis - Limb ataxia - Pes planus - Progressive muscle weakness - Short metacarpal - Short metatarsal - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD