	Label	Description
	Hydrocephalus Phenotype (Entity type)	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequa...
	Aplasia/Hypoplasia of the corpus callosum Phenotype (Entity type)	Absence or underdevelopment of the corpus callosum.
	Cerebellar atrophy Phenotype (Entity type)	Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa...
	BS NB2BA2N6 Biosample (Entity type)	A biosample from Kids First produced as part of the SD Q2F7XA29 project
	57cb1b3e-effd-4285-8cd7-47ba5229fe53.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	57cb1b3e-effd-4285-8cd7-47ba5229fe53.peddy.sex check.csv File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	57cb1b3e-effd-4285-8cd7-47ba5229fe53.CGP.filtered.deNovo.vep.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	57cb1b3e-effd-4285-8cd7-47ba5229fe53.variant calling detail metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	57cb1b3e-effd-4285-8cd7-47ba5229fe53.peddy.peddy.ped File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	57cb1b3e-effd-4285-8cd7-47ba5229fe53 stats.txt File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

Hydrocephalus

Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequa...

Aplasia/Hypoplasia of the corpus callosum

Absence or underdevelopment of the corpus callosum.

Cerebellar atrophy

Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa...

BS NB2BA2N6

A biosample from Kids First produced as part of the SD Q2F7XA29 project

57cb1b3e-effd-4285-8cd7-47ba5229fe53.variant calling summary metrics