Say Syndrome

Alias:

Cleft Palate, Microcephaly, Large Ears, and Short Stature

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Say Syndrome, also known as cleft palate, microcephaly, large ears, and short stature, is related to barber-say syndrome and ablepharon-macrostomia syndrome. An important gene associated with Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, and related phenotypes are macrotia and microcephaly

Related ID：

MALACARDS：SYS006

OMIM：181180