Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Arboleda-Tham syndrome
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
07/22/2015
PubMed IDs:
25728775 30245513 32041641 30775047 29899504 31754438 27133397 25728777 35892268 28649320 30105118 33386251 33552646 33770237 34039162 34295791 34439586 34748993 34930245 36070007 36453964 36573038 36672906 36880793 37269490 38143025
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

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