Fragile X syndrome

Orpha code: 908OMIM code: 311360

Definition

A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.

Disease data
Classification

Malformation syndrome

Synonyms
FRAXA syndrome
FXS
Zespół FraX
Zespół FRAXA
Zespół Martina i Bell
FXS
FraX syndrome
Martin-Bell syndrome
ORPHA code
908
OMIM code
311360
ICD10 code
Q99.2
ICD11 code
LD55

No additional description.

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