Alpha-thalassemia-X-linked intellectual disability syndrome

Orpha code: 847OMIM code: 309580

Definition

A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.

Disease data
Classification

Malformation syndrome

Synonyms
ATR-X syndrome
Zespół ATR-X
ORPHA code
847
OMIM code
309580
ICD10 code
D56.0
ICD11 code
-

No additional description.

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