2q24 microdeletion syndrome
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. [ ]
Term info
2q24 microdeletion syndrome
- Del(2)(q24)
- monosomy 2q24
ordo_malformation_syndrome
http://linkedlifedata.com/resource/umls/id/CN036809, http://identifiers.org/mesh/C538316, http://identifiers.org/snomedct/719658006, http://purl.obolibrary.org/obo/Orphanet_1617
http://purl.obolibrary.org/obo/MONDO_0020226
chromosome 2q24 microdeletion syndrome, deletion 2q24, 2q24 deletion
MONDO:0015566
https://icd.codes/icd10cm/Q93.5
https://github.com/monarch-initiative/mondo/issues/3664