cerebellar-facial-dental syndrome
A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
CEREBELLOFACIODENTAL syndrome
related
CFDS
related
Cerebellofaciodental syndrome
exact
cerebellar-facial-dental syndrome
exact
SPBC13E7.10c