Deletions at 10p13-p14 can result in a number of phenotypic findings.

10p13 contains the PHYH gene associated with Refsum's disease.


Clinical findings may include:

(1) cardiac defects (VSD, ASD, other)

(2) immune deficiency (T cell)

(3) hypoparathyroidism

(4) cleft palate

(5) developmental delay

(6) microcephaly

(7) cryptorchidism

(8) renal dysplasia

(9) sensorineural deafness

(10) facial dysmorphism

(11) clinodactyly


Facial dysmorphism may include:

(1) downward slanting palpebral fissures

(2) hypertelorism

(3) blepharophimosis

(4) ptosis

(5) epichanthal folds

(6) curled eye lashes

(7) low nasal root with flat nose and anteverted nares

(8) high arch palate

(9) micrognathia

(10) small, posteriorly roated ears

(11) short neck


Patients may show features of DiGeorge/velocardiofacial syndrome associated with deletions at 22q11.

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