Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Name: |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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Description: |
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
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ORPHAcode: |
457193
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Synonyms: |
Arboleda-Tham syndrome
KAT6A syndrome
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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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