Description

The GOMBO syndrome is a rare genetic disorder that may be included with the multiple congenital anomalies with mental retardation (MCA/MR) disorders.


Inheritance: pseudo-recessive (cryptic translocation)

 

G: growth retardation with short stature

O: ocular abnormalities (including microphthalmia)

M: microcephaly

B: bradydactyly

O: oligophrenia (intellectual disability)


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