DISEASES

Disease-gene associations mined from literature

Human genes for microcephaly

Microcephaly [DOID:10907]

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.

Synonyms:  microcephaly,  DOID:10907,  Micrencephaly,  Micrencephaly (disorder),  Microcephalus ...