Total 48 clinical symptoms reported for Microcephaly, normal intelligence and immunodeficiency
Abnormal hair morphology |
An abnormality of the hair.
Synonyms:Abnormality of the hair; Hair abnormality |
Very frequent |
Abnormal hair quantity |
An abnormal amount of hair.
Synonyms:Abnormal hair quantity; Abnormality of hair density |
Very frequent |
Abnormality of the face |
An abnormality of the face.
Synonyms:Abnormal face; Abnormality of the face; Facial abnormality |
Very frequent |
Anal atresia |
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Synonyms:Absent anus |
Very frequent |
Anal stenosis |
Abnormal narrowing of the anal opening.
Synonyms:Narrowing of anal opening |
Very frequent |
Anorectal anomaly |
An abnormality of the anus or rectum.
|
Very frequent |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Synonyms:ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder |
Very frequent |
Autoimmune hemolytic anemia |
An autoimmune form of hemolytic anemia.
Synonyms:Autoimmune haemolytic anaemia; Hemolytic anemia, autoimmune |
Very frequent |
Cachexia |
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Synonyms:Wasting syndrome |
Very frequent |
Chronic diarrhea |
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Synonyms:Chronic diarrhea |
Very frequent |
Convex nasal ridge |
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Synonyms:Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity |
Very frequent |
Deep philtrum |
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Synonyms:Increased depth of philtrum; Philtrum, deep; Prominent philtrum; Pronounced philtrum |
Very frequent |
Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
Hearing abnormality |
An abnormality of the sensory perception of sound.
Synonyms:Abnormal hearing; Hearing abnormality |
Very frequent |
Hemolytic anemia |
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Synonyms:Haemolytic anaemia; Increased hemolysis |
Very frequent |
Low anterior hairline |
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Synonyms:Low frontal hairline; Low-set frontal hairline |
Very frequent |
Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
Mental deterioration |
Loss of previously present mental abilities, generally in adults.
Synonyms:Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline |
Very frequent |
Microcephaly |
Head circumference below 2 standard deviations below the mean for age and gender.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference |
Very frequent |
Prominent nasal bridge |
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Synonyms:Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge |
Very frequent |
Prominent nose |
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Synonyms:Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose |
Very frequent |
Recurrent pneumonia |
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Synonyms:Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections |
Very frequent |
Recurrent respiratory infections |
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Synonyms:Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections |
Very frequent |
Recurrent sinopulmonary infections |
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Synonyms:Chronic sinopulmonary infection; Recurrent sinus and lung infections |
Very frequent |
Retrognathia |
An abnormality in which the mandible is mislocalised posteriorly.
Synonyms:Lower jaw retrognathia; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Weak chin; Weak jaw |
Very frequent |
Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
Short stature |
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
Sloping forehead |
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Synonyms:Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead |
Very frequent |
Thrombocytopenia |
A reduction in the number of circulating thrombocytes.
Synonyms:Low platelet count |
Very frequent |
Upslanted palpebral fissure |
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Synonyms:Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures |
Very frequent |