Topic: Alpha-thalassemia x-linked intellectual disability syndrome
Question: What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ?
Answer: What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability 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 fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - 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)