====== Warburg Micro syndrome ======
[{{ :content:autorecessive.jpeg?direct&200|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[(:cite:8249951>{{pmid>long:8249951}})] 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 [[https://ghr.nlm.nih.gov/gene/RAB3GAP2|RAB3GAP2]].

===== Differential diagnosis =====

  * [[content:martsolf_syndrome|Martsolf syndrome]]
  * [[https://omim.org/entry/214150|Cerebro-oculo-facial-skeletal (COFS) syndrome]]
  * [[https://omim.org/entry/604168|congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome]]
  * [[https://omim.org/entry/212540|CAMFAK Syndrome]] (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).

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

==== References ====
~~REFNOTES~~