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DO Term : neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities [DOID:0070513] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.

synonyms:
NEDFBA,
OMIM:620489,
620489

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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