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Items: 2

1.

Intellectual disability, autosomal dominant 41

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. [from MONDO]

MedGen UID:
934751
Concept ID:
C4310784
Disease or Syndrome
2.

Pierpont syndrome

Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011). [from OMIM]

MedGen UID:
356049
Concept ID:
C1865644
Disease or Syndrome

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