What are the signs and symptoms of I cell disease? The Human Phenotype Ontology provides the following list of signs and symptoms for I cell disease. 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 thorax 90% Coarse facial features 90% Cognitive impairment 90% Corneal erosion 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Morphological abnormality of the central nervous system 90% Short stature 90% Splenomegaly 90% Anteverted nares 50% Depressed nasal bridge 50% Epicanthus 50% Lack of skin elasticity 50% Long philtrum 50% Thin skin 50% Abnormality of the heart valves 7.5% Abnormality of the wrist 7.5% Broad alveolar ridges 7.5% Cavernous hemangioma 7.5% Congestive heart failure 7.5% Corneal dystrophy 7.5% Kyphosis 7.5% Recurrent respiratory infections 7.5% Weight loss 7.5% Abnormality of the rib cage - Aortic regurgitation - Atlantoaxial dislocation - Autosomal recessive inheritance - Beaking of vertebral bodies T12-L3 - Bullet-shaped phalanges of the hand - Cardiomegaly - Carpal bone hypoplasia - Death in childhood - Deficiency of N-acetylglucosamine-1-phosphotransferase - Diastasis recti - Failure to thrive - Flared iliac wings - Flat acetabular roof - Heart murmur - High forehead - Hip dislocation - Hoarse voice - Hypertrophic cardiomyopathy - Hypoplasia of the odontoid process - Hypoplastic scapulae - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Inguinal hernia - Large sella turcica - Lower thoracic interpediculate narrowness - Macroglossia - Megalocornea - Metaphyseal widening - Mucopolysacchariduria - Myelopathy - Narrow forehead - Neonatal hypotonia - Opacification of the corneal stroma - Osteopenia - Ovoid vertebral bodies - Palpebral edema - Pathologic fracture - Progressive alveolar ridge hypertropy - Protuberant abdomen - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Severe global developmental delay - Severe postnatal growth retardation - Short long bone - Sparse eyebrow - Split hand - Talipes equinovarus - Thickened calvaria - Thoracolumbar kyphoscoliosis - Umbilical hernia - Varus deformity of humeral neck - 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.