8p11.2 deletion syndrome

Orpha code: 251066OMIM code:

Definition

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Disease data
Classification

Malformation syndrome

Synonyms
Del(8)(p11.2)
Del(8)(p11.2)
Monosomia 8p11.2
Monosomy 8p11.2
ORPHA code
251066
OMIM code
-
ICD10 code
Q93.5
ICD11 code
LD44.81

No additional description.

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