FB2025_05 , released December 11, 2025

CV Term Report

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General Information

Term

neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities

ID (Ontology)

DOID:0081387 (Human Disease)

Definition

An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

Full annotation statements	Relevant FlyBase reports
Full annotation statements	Alleles	Genes	Human Disease Models
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	7	1	1
for disease ribbon \| neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	--	1	--
model of \| neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	7	1	--

Spanning Tree (Parents/Children)

autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities  9 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	autosomal recessive intellectual developmental disorder
Part of
Synonyms & Secondary IDs
Synonyms

Secondary IDs

External Crossreferences & Linkouts
	MIM:620428