Disease #06953 (NECRC (neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitie), OMIM:619522)

Official abbreviation NECRC
Name neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitie
OMIM ID 619522
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ZMYM2
Associated tissues -
Disease features -
Remarks -
Date created 2022-08-05 13:59:32 +02:00 (CEST)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00428257 211248 - - F no Germany - - - - - NECRC Global developmental delay, Delayed speech and language development, Short attention span ZMYM2 ZMYM2 1 1 Andreas Laner
00464622 214565 - - F no Italy - - - - - NECRC Neurodevelopmental delay, Intellectual disability, Microcephaly, Atypical behavior, Delayed speech and language development, Amblyopia, Sleep abnormality, Anxiety ZMYM2 ZMYM2 1 1 Andreas Laner
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