What are the symptoms of X-linked intellectual disability, Najm type ?
What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm 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% Abnormality of the nose 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Gait disturbance 50% Hypertelorism 50% Long philtrum 50% Macrotia 50% Microcephaly 50% Myopia 50% Nystagmus 50% Seizures 50% Sensorineural hearing impairment 50% Strabismus 50% Visual impairment 50% Chorioretinal coloboma 7.5% Hypertonia 7.5% Macrogyria 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Optic disc pallor 7.5% Optic nerve hypoplasia 7.5% Scoliosis 7.5% Absent speech - Broad nasal tip - Cerebellar hypoplasia - Decreased body weight - Dilated fourth ventricle - Epicanthus - Generalized hypotonia - High palate - Hyperreflexia - Hypohidrosis - Intellectual disability, moderate - Large eyes - Muscle weakness - Muscular hypotonia of the trunk - Oval face - Postnatal growth retardation - Prominent nasal bridge - Short nose - Short stature - Spasticity - Wide nasal bridge - 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.