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全身发育迟缓-脱发-大头畸形-面部畸形-结构性脑异常综合症

ORPHA:544488· ICD-10 E72.4· Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

患病率
<1 / 1 000 000
遗传方式
Autosomal dominant
发病年龄
Antenatal, Neonatal