A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2. [ DOID:0112383 ]

This is just here as a test because I lose it

Term information

database cross reference
exactMatch

http://purl.obolibrary.org/obo/DOID_0112383

https://omim.org/entry/619297

http://linkedlifedata.com/resource/umls/id/C5543317

http://identifiers.org/medgen/1779339

id

MONDO:0851095