congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0020165
obsolete syndromic epicanthus (obsolete MONDO:0020165)
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016949
partial duplication of the short arm of chromosome 16
is_a
MONDO:0020046
autosomal recessive degenerative and progressive cerebellar ataxia
is_a
CCFDN
exact
congenital cataracts, facial dysmorphism, and neuropathy
related
congenital cataracts-facial dysmorphism-neuropathy syndrome
exact
SPAC19B12.05c