Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Orpha code: 52055OMIM code: 300472

Definition

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

Disease data
Classification

Malformation syndrome

Synonyms
Graham-Cox syndrome
Zespół Grahama i Coxa
ORPHA code
52055
OMIM code
300472
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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