Question: What are the symptoms of Chromosome 19q13.11 deletion syndrome ?
Answer: What are the signs and symptoms of Chromosome 19q13.11 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 19q13.11 deletion 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) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Decreased body weight 90% Displacement of the external urethral meatus 90% Intrauterine growth retardation 90% Microcephaly 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the eyebrow 50% Broad columella 50% Cryptorchidism 50% Dry skin 50% Fine hair 50% Finger syndactyly 50% High forehead 50% Long face 50% Overlapping toe 50% Recurrent respiratory infections 50% Supernumerary nipple 50% Thin skin 50% Thin vermilion border 50% Toe syndactyly 50% Underdeveloped nasal alae 50% Abnormality of the hip bone 7.5% Bifid scrotum 7.5% Cataract 7.5% Hearing impairment 7.5% Microcornea 7.5% Ventricular septal defect 7.5% Wide mouth 7.5% Cutaneous finger syndactyly - Decreased subcutaneous fat - Failure to thrive - Feeding difficulties in infancy - Hypospadias - Intellectual disability - Low-set ears - Macrotia - Nail dysplasia - Postnatal growth retardation - Retrognathia - Short stature - Single umbilical artery - Sparse eyebrow - Sparse eyelashes - Sporadic - Wide intermamillary distance - 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