Question: What are the symptoms of Mental retardation X-linked, South African type ?
Answer: What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. 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) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Decreased body weight 90% Incoordination 90% Long face 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Seizures 90% Strabismus 90% Thick eyebrow 90% Adducted thumb 50% Aplasia/Hypoplasia of the corpus callosum 50% Autism 50% Cerebral cortical atrophy 50% Feeding difficulties in infancy 50% Gait disturbance 50% Microcephaly 50% Nystagmus 50% Ophthalmoparesis 50% Pectus excavatum 50% Ventriculomegaly 50% Deeply set eye 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Skeletal muscle atrophy 7.5% Abnormality of the foot - Absent speech - Bowel incontinence - Cerebellar atrophy - Drooling - Dysphagia - Flexion contracture - Happy demeanor - Hyperkinesis - Intellectual disability, progressive - Intellectual disability, severe - Long nose - Loss of ability to walk in first decade - Muscular hypotonia - Mutism - Narrow chest - Neuronal loss in central nervous system - Open mouth - Ophthalmoplegia - Photosensitive tonic-clonic seizures - Sleep disturbance - Slender finger - Truncal ataxia - Urinary incontinence - X-linked dominant inheritance - 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