Phenotypes
Db Link Name Definition Comment Is a
HPO HP:0000954 Single transverse palmar crease "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, PMID:19125433] The presence of a single palmar crease (instead of the two palmar creases that are typically present). HP:0010490
HPO HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:probinson, PMID:21263138] The corpus callosum appears thin in midline views of the brain in neuroradiological images. HP:0007370
HPO HP:0000369 Low-set ears "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] HP:0000357
HPO HP:0000463 Anteverted nares "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. HP:0000429, HP:0005105, HP:0005288
OMIM OMIM:244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS