Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
mandibulofacial dysostosis-microcephaly syndrome
Mandibulofacial dysostosis, Guion-Almeida type
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
05/24/2023
PubMed IDs:
22305528 23188108 31413053 30343593 28643921 27670155 26507355 25735261 25387991 24470203 23879989 23239648 26118977 29381487 32408545 32541334 32943010 34693919 35175019 35395430 35435265 35732499
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

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