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2022-12-23
(HP:0002457 present): Abnormal head movements (HP:0003368 absent): Abnormal femoral head morphology (HP:0011217 present): Abnormal shape of the occiput (OMIM:608805 present): AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 (ORPHA:2013 present): Cleft palate-large ears-small head syndrome
Abnormal head movements
HPO
HP:0002457
Abnormal femoral head morphology
HPO
HP:0003368
Abnormal shape of the occiput
HPO
HP:0011217
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1
OMIM
OMIM:608805
Cleft palate-large ears-small head syndrome
Orphanet
ORPHA:2013
2022-12-21
(HP:0002457 present): Abnormal head movements (HP:0003368 present): Abnormal femoral head morphology (OMIM:600288 present): FORKHEAD BOX A2; FOXA2 (ORPHA:2013 present): Cleft palate-large ears-small head syndrome
Abnormal head movements
HPO
HP:0002457
Abnormal femoral head morphology
HPO
HP:0003368
FORKHEAD BOX A2; FOXA2
OMIM
OMIM:600288
Cleft palate-large ears-small head syndrome
Orphanet
ORPHA:2013
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