This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Decreased body height
Small stature[ more ]
Receding forehead[ more ]
|Thin upper lip vermilion||
Thin upper lip
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
|30%-79% of people have these symptoms|
|Abnormal cortical bone morphology||0003103|
|Hypoplasia of the frontal lobes||
Underdeveloped frontal lobe
|Unilateral renal agenesis||
Absent kidney on one side
Missing one kidney
Single kidney[ more ]
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
MCPH and Seckel syndrome belong to a clinical continuum, as mutations of some genes (CENPJ, CEP152) result in either phenotype. The distinction between MCPH and Seckel relies on a historical distinction between microcephalic patients with normal stature and patients with reduced stature. Normal fundus examination is important to distinguish MCPH from the microcephaly-chorioretinopathy syndromes. MRI is crucial to distinguish MCPH from other disorders with congenital microcephaly, such as lissencephaly, Norman-Roberts type (see this term) or infectious embryofetopathies. Assessment of maternal serum phenylalaninemia is mandatory to exclude maternal phenylketonuria (see this term).
Visit the Orphanet disease page for more information.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Me gustaría saber si la microcefalia primaria autosómica recesiva se puede heredar porque estoy planeando tener un bebe y mi cuñado tiene esta enfermedad. See answer