Congenital cataracts - facial dysmorphism - neuropathy syndrome

X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. [Source: Wikipedia ]

Synonyms
Cataract-dysmorphism-neuropathy syndrome
CCFDN syndrome
OrphaNet reference
Congenital cataracts - facial dysmorphism - neuropathy