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.
