FRAGILE X SYNDROME

[X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny. ( CSP )]

UMLS (ICD9CM) C0016667

Congenital Abnormality
Disease or Syndrome

Relation/PAR: Chromosomal anomalies
Arrieration mentale
Sex Chromosome Abnormalities
syndrome
Chromosomal Disorders, Nervous System

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