Disease #05941 (MCAND (multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND)), OMIM:301056)

Official abbreviation MCAND
Name multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND)
OMIM ID 301056
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene OTUD5
Associated tissues -
Disease features -
Remarks -
Date created 2021-05-21 19:28:27 +02:00 (CEST)
Date last edited N/A


Individuals

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00424937 209099 - - M no Germany - - - - - MCAND Autistic behavior, Intellectual disability, Visual impairment, Iris coloboma, Dystonia, Hypotonia, Ragged-red muscle fibers, Increased mitochondrial number OTUD5 OTUD5 1 1 Andreas Laner
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