Corpus callosum agenesis-macrocephaly-hypertelorism syndrome


Engelsk navn: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Engelske synonym: 7q36.3 microduplication syndrome,Dup(7)(q36.3)


Definisjon

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.

Fra Orphanet

ORPHA: 459074
Klassifiseringsnivå: Disorder
ICD-10: Q04.0

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