Microdeletions at 4q25 may present with a number of clinical findings.

Patient selection: microdeletion at 4q25


Genes affected: PITX2, EGF, ELOVL6, ENPEP


Inheritance: autosomal dominant


Clinical features:

(1) Axenfeld-Rieger anomaly (ARA, defect of anterior eye)

(2) dental anomalies (dental agenesis, oligodontia)

(3) cardiac malformations (tetralogy of Fallot, other)

(4) umbilical defects

(5) maxillary hypoplasia

(6) variable mild cognitive delay

(7) variable behavioral problems

(8) variable malformations of fingers (long fingers, short metacarpals, other)

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