Search
Properties
MORBIDMAP
:NAME MM: Congenital cataracts, facial dysmorphism, and neuropathy
:MORBID_ID 604168
:NUM 3
:SYM (CTDP1 FCP1 CCFDN)
:LOCUS 18q23
:OMIM_ID 604927
:SNP CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CTDP1, IVS6, C-T, +389; rs113994102
:AAUSHI AUTOSOMAL_DOMINANT_CATARACTS PERIPHERAL_NERVE_DISEASE
:AAUSHIGENE TFIIF_ASSOCIATING_CTD_PHOSPHATASE