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DO Term : syndromic X-linked intellectual disability 17 [DOID:0060803] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.

synonyms:
mental retardation, X-linked, syndromic 17,
X-linked mental retardation with alacrima and achalasia,
OMIM:300858,
ORDO:289483,
intellectual disability-alacrima-achalasia syndrome,
300858

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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