Warburg Micro syndrome

Autosomal recessive inheritance

• rare autosomal recessive genetic disorder.
• characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism
• associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20
• in 1993 Warburg used the term MICRO syndrome^[1] to describe an autosomal recessive syndrome comprising microcephaly, microcornea, congenital Cataract, mental retardation, optic atrophy, and hypogenitalism
• part of a spectrum of disease that includes Martsolf syndrome at the mild end. Martsolf syndrome is linked to mutations in RAB3GAP2.

• Martsolf syndrome
• Cerebro-oculo-facial-skeletal (COFS) syndrome
• congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome
• CAMFAK Syndrome (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).

https://rarediseases.org/rare-diseases/warburg-micro-syndrome/