Racial group affected: Roma (gypsies)
Inheritance: autosomal recessive
Location of genetic defect: 18q23
Gene affected: CTDPI (carboxy-terminal domain phosphatase 1)
Clinical features:
(1) bilateral congenital cataracts
(2) microcornea
(3) microphthalmos
(4) micropupils
(5) peripheral neuropathy with hypomyelination
(6) impaired physical growth with short stature
(7) delayed early motor development
(8) mild cognitive impairment
(9) mild facial dysmorphism (prominent midface, hypognathism, forwardly-directed anterior dentition)
(10) hypogonadotropic hypogonadism
(11) recurrent parainfectious rhabdomyolysis
(12) osteoporosis
(13) cerebral and spinal cord atrophy
