ring chromosome 14
Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0700021
chromosome 14 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
Chromosome 14 Ring
exact
Ring 14
related
Ring chromosome type 14
exact
chromosome 14 ring
related
ring chromosome 14 syndrome, isolated cases
exact