Description

The DREAM-PL syndrome is a rare disorder with congenital microcephaly and lissencephaly.


Chromosome Location: 16q24.3

Gene affected: CTU2 (cytosolic thiouridylase subunit 2) with abnormal t-RNA

 

Inheritance: autosomal recessive

 

D: dysmorphic facies (micrognathia, depressed nasal bridge, up-slanting palpebral fissures, other)

RE: renal agenesis

A: ambiguous genitalia (male)

M: microcephaly

P: polydactyly

L: lissencephaly (smooth brain with absence of cerebral gyri)


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