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ONTOLOGY REPORT - ANNOTATIONS


Term:intellectual disability-severe speech delay-mild dysmorphism syndrome
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Accession:DOID:0111331 term browser browse the term
Definition: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 FOXP1 on chromosome 3p13. (DO)
Synonyms:exact_synonym: FOXP1 syndrome;   mental retardation with language impairment and with or without autistic features
 narrow_synonym: INTELLECTUAL DISABILITY WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES;   MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
 primary_id: OMIM:613670
 alt_id: RDO:0009934
 xref: GARD:12501;   ORDO:391372
For additional species annotation, visit the Alliance of Genome Resources.


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intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Language Development Disorders 87
        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  communication disorder 212
                    language disorder 136
                      Language Development Disorders 87
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.