Disease association ontology term - MONDO:0030037 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Term summary

ID: MONDO:0030037
Name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Ontology or CV name: Disease association

Parents

is_a inherited lipid metabolism disorder
is_a disorder of GPI anchor biosynthesis
is_a Mendelian neurodevelopmental disorder

Annotation

Disease association

MONDO:0030037 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

References:

PB_REF:0000006

Genes:

gpi8 (SPCC11E10.02c)