Question: What are the symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ?
Answer: What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. 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% Cerebral calcification 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Cryptorchidism 90% Hemiplegia/hemiparesis 90% Hernia of the abdominal wall 90% Hydrocephalus 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Strabismus 90% Ventriculomegaly 90% Abnormality of the palate 50% Behavioral abnormality 50% Gait disturbance 50% Scoliosis 50% Short philtrum 50% Decreased body weight 7.5% Hearing abnormality 7.5% Increased bone mineral density 7.5% Joint hypermobility 7.5% Long face 7.5% Optic atrophy 7.5% Dandy-Walker malformation 5% Abnormality of the basal ganglia - Choreoathetosis - Coarse facial features - Deeply set eye - Flexion contracture - Gait ataxia - High-frequency hearing impairment - Hyperreflexia - Intellectual disability - Mandibular prognathia - Prominent forehead - Prominent nose - Seizures - Self-injurious behavior - Sensorineural hearing impairment - Spasticity - Thick vermilion border - Wide mouth - X-linked 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