Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Name: |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
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Description: |
A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.
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ORPHAcode: |
404440
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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