Fryns Macrocephaly

Fryns Macrocephaly(来自ICD-11)

别称:

Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance

Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fryns Macrocephaly, is also known as macrocephaly with spastic paraplegia and distinctive craniofacial appearance, and has symptoms including seizures Affiliated tissues include eye, and related phenotypes are macrocephaly and intellectual disability

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