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