Ulna hypoplasia-intellectual disability syndrome

Orpha code: 2249OMIM code: 276821

Definition

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

Disease data
Classification

Malformation syndrome

ORPHA code
2249
OMIM code
276821
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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