|  Help  |  About  |  Contact Us

DO Term : intellectual disability-severe speech delay-mild dysmorphism syndrome [DOID:0111331] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.
  • synonyms:
  • FOXP1-Related Neurodevelopmental Disorder,
  • 613670,
  • FOXP1 Haploinsufficiency,
  • OMIM:613670,
  • ORDO:391372,
  • GARD:12501,
  • Mental retardation with language impairment and with or without autistic features,
  • FOXP1 syndrome
Quick Links:
 
Quick Links:
 

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