Rare Disease Intelligence

Intellectual disability, autosomal dominant 5 is a neurodevelopmental condition caused by mutations in the SYNGAP1 gene. The disorder primarily affect...

Intellectual disability, autosomal dominant 54 is a neurodevelopmental disorder that primarily affects cognitive and developmental functions. The cond...

Intellectual disability, autosomal dominant 55, with seizures is a neurodevelopmental disorder primarily affecting the central nervous system. It is c...

Intellectual disability, autosomal dominant 58 is a neurodevelopmental condition that primarily affects cognitive and developmental functioning, along...

Intellectual disability, autosomal dominant 6 is a neurodevelopmental condition characterized by significant cognitive impairment, seizures, and globa...

Intellectual disability, autosomal dominant 9 is a very rare neurodevelopmental condition caused by pathogenic variants in the KIF1A gene. It typicall...

Intellectual disability, autosomal recessive 1 is a neurodevelopmental condition that primarily affects cognitive functioning. It is caused by mutatio...

Intellectual disability, autosomal recessive 12 is an inherited condition primarily affecting neurodevelopment and cognitive function. It is caused by...

Intellectual disability, autosomal recessive 13 is a neurodevelopmental condition caused by mutations in the TRAPPC9 gene. This condition is character...

Intellectual disability, autosomal recessive 18 is a neurodevelopmental condition caused by mutations in the MED23 gene. This disorder primarily affec...