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Paper Details

Expansion of phenotype of DDX3X syndrome: six new cases.
Clin Dysmorphol
16
2019
DDX3X, DDX3X syndrome, bulbous nasal tip, cutaneous mastocytosis, developmental delay, dystonic episodes, facial dysmorphism, facial dysmorphisms, growth disturbance, high arched palate, intellectual disability, lipoatrophy, micrognathia, movement disorder, perinatal complications, protruding ears, short palpebral fissures, thin upper vermillion, valgus feet deformity
Author NameAffiliation
Gopinath M SubramanianJohn Hunter Children's Hospital
Michael S HildebrandEpilepsy Research Centre
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Datasets

Release 1.2