Rare Disease Intelligence

Microcephaly 4, primary, autosomal recessive is a neurodevelopmental condition that primarily affects brain growth and development, resulting in a sma...

Microcephaly 5, primary, autosomal recessive is a condition primarily affecting brain development that leads to a significantly smaller head size and...

Microcephaly 7, primary, autosomal recessive is a neurodevelopmental condition that primarily affects brain growth resulting in a smaller head circumf...

Microcephaly 9, primary, autosomal recessive is a condition characterized by a smaller than normal head size that is evident from birth. It is caused...

Microcephaly and chorioretinopathy is a disorder that primarily affects brain and eye development, potentially leading to challenges in head growth an...

Microcephaly and chorioretinopathy 1 is an inherited condition that affects brain development and the eyes, leading to a small head size and character...

Microcephaly with intellectual disability is a neurodevelopmental condition primarily characterized by an abnormally small head size and cognitive imp...

Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability is a developmental condition that primarily affects brain growt...

Microcephaly with simplified gyral pattern is a neurological condition characterized by a smaller than expected head size and a simplified brain foldi...

Microcephaly, epilepsy, and diabetes syndrome 1 is a multisystem condition that primarily affects brain development and metabolic regulation. It is ch...

Microcephaly, epilepsy, and diabetes syndrome 2 (also known as MEDS2) is a multisystem condition that primarily affects both the nervous and endocrine...