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Intellectual disability, X-linked 19(XLID19)

MedGen UID:
208676
Concept ID:
C0796225
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19; XLID19
 
RPS6KA3 (Xp22.12)
 
Monarch Initiative: MONDO:0010447
OMIM®: 300844

Definition

X-linked intellectual development disorder-19 (XLID19) is characterized by mildly to moderately impaired intellectual development. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a syndrome with impaired intellectual deveopment, dysmorphic facial features, and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with impaired intellectual development and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006). [from OMIM]

Clinical features

From HPO

Supplemental Content

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