Semilobar holoprosencephaly

Orpha code: 220386OMIM code: 610829

Definition

A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.

Disease data
Classification

Clinical subtype

ORPHA code
220386
OMIM code
610829
ICD10 code
Q04.2
ICD11 code
LA05.2

No additional description.

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