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syndromic X-linked intellectual disability 5

Go to external page http://purl.obolibrary.org/obo/MONDO_0010574

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. [ ]

Term info

Label

syndromic X-linked intellectual disability 5

Synonyms
  • MRX59
  • MRXS21
  • Pettigrew syndrome
  • Pettigrew syndrome, X-linked recessive
  • X-linked intellectual disability 59
  • X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
  • X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
  • X-linked mental retardation 59
  • X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
  • intellectual disability, X-linked syndromic 5
  • mental retardation, X-linked syndromic 5
  • syndromic X-linked intellectual disability 21
  • syndromic X-linked intellectual disability fried type
  • syndromic X-linked intellectual disability type 5
  • syndromic X-linked mental retardation 21
  • syndromic X-linked mental retardation fried type
database cross reference
Subsets

ordo_malformation_syndrome

comment

Editor note: check relationship to friend syndrome

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1568, http://purl.obolibrary.org/obo/DOID_0060800, http://linkedlifedata.com/resource/umls/id/CN206181, http://linkedlifedata.com/resource/umls/id/C0796254, http://purl.obolibrary.org/obo/NCIT_C124839, http://identifiers.org/snomedct/719139003, http://purl.obolibrary.org/obo/Orphanet_85329, https://omim.org/entry/304340

has related synonym

intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures, mental retardation, X-linked, syndromic 5, PETTIGREW syndrome, intellectual disability, X-linked, syndromic 21, fried syndrome, intellectual disability, X-linked 59, mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures, X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures, intellectual disability, X-linked, syndromic, fried type, mental retardation, X-linked, syndromic, fried type, mental retardation, X-linked 59, intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures, MRXS5, intellectual disability, X-linked, syndromic 5, mental retardation X-linked syndromic 5, intellectual disability X-linked syndromic 5, mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures, Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures, PGS, mental retardation, X-linked, syndromic 21

id

MONDO:0010574

narrowMatch

https://icd.codes/icd10cm/Q23.8, https://icd.codes/icd10cm/Q87.8

see also

https://github.com/monarch-initiative/mondo/issues/4521