Disease association ontology term - MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Term summary

ID: MONDO:0044646
Name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Ontology or CV name: Disease association

Parents

excluded_subClassOf syndromic intellectual disability
excluded_subClassOf monogenic epilepsy
is_a congenital nervous system disorder
is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a inherited neurodegenerative disorder
is_a Mendelian encephalopathy

Annotation

Disease association

MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

References:

PB_REF:0000006

Genes:

alp1 (SPBC11C11.04c)