MCID: MND028
MIFTS: 13
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Mandibulofacial Dysostosis with Mental Retardation
Categories:
Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Mandibulofacial Dysostosis with Mental Retardation:
Name: Mandibulofacial Dysostosis with Mental Retardation
57
Characteristics:Classifications: |
MalaCards based summary
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Mandibulofacial Dysostosis with Mental Retardation An important gene associated with Mandibulofacial Dysostosis with Mental Retardation is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include bone, and related phenotypes are malar flattening and high palate
Description from OMIM:
248400
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:248400Human phenotypes related to Mandibulofacial Dysostosis with Mental Retardation:32 (show all 10)
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MalaCards organs/tissues related to Mandibulofacial Dysostosis with Mental Retardation:41
Bone
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ClinVar genetic disease variations for Mandibulofacial Dysostosis with Mental Retardation:6
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Search
GEO
for disease gene expression data for Mandibulofacial Dysostosis with Mental Retardation.
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