Trigonocephaly with Short Stature and Developmental Delay (SAMES)

Alias:

Say-Meyer Syndrome

Trigonocephaly-Short Stature-Developmental Delay Syndrome

Say Meyer Syndrome

Sames

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Basic Information

Medical Symptom

Gene & Mutation

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Disease Model

References Literature

Trigonocephaly with Short Stature and Developmental Delay, also known as say-meyer syndrome, is related to c syndrome and synostosis, and has symptoms including seizures An important gene associated with Trigonocephaly with Short Stature and Developmental Delay is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include bone, and related phenotypes are global developmental delay and short stature

Related ID：

MALACARDS：TRG019

OMIM：314320