Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. [ Orphanet:96096 ]

Synonyms: telomeric duplication 4q distal duplication 4q trisomy 4qter distal trisomy type 4q

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4706362 (MONDO:equivalentTo)
  • MEDGEN:1633392 (MONDO:equivalentTo)
  • GARD:19312 (MONDO:GARD)
  • Orphanet:96096 (MONDO:equivalentTo)
  • SCTID:763273008 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

exactMatch

http://identifiers.org/snomedct/763273008

http://identifiers.org/medgen/1633392

http://www.orpha.net/ORDO/Orphanet_96096

http://linkedlifedata.com/resource/umls/id/C4706362

id

MONDO:0019879