Rare Disease Intelligence

Microcephaly, growth restriction and increased sister chromatid exchange is a genetic condition that is characterized by a smaller than average head s...

Microcephaly, seizures, and developmental delay is a developmental and epileptic encephalopathy that primarily affects infants. It is characterized by...

Microcephaly, short stature, and impaired glucose metabolism 1 is a complex condition that primarily affects neurodevelopment and metabolic regulation...

Microcephaly, short stature, and impaired glucose metabolism 2 is a condition characterized by abnormal brain development, reduced growth, and challen...

Microcephaly-brain defect-spasticity-hypernatremia syndrome is an extremely rare congenital condition affecting the central nervous system. It is char...

Microcephaly-cardiac defect-lung malsegmentation syndrome is a very rare condition. It is characterized by a small head size (microcephaly), heart def...

Microcephaly-cardiomyopathy syndrome is a very rare condition characterized by severe intellectual deficits, a significantly small head size (microcep...

Microcephaly-cervical spine fusion anomalies syndrome is a very rare condition, affecting fewer than 1 in a million individuals, that principally impa...

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome is an extremely rare multisystem condition that affects several parts of the body in...