Disease #06008 (NEDBEH (Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart), OMIM:616975)

Official abbreviation NEDBEH
Name Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
OMIM ID 616975
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene RERE
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

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00416214 204274 - - F no Germany - - - - - NEDBEH Birth in 36th week, developmental slowdown from 2nd year, now profound developmental/perceptual disorder, no malformations (incl. MRI skull), no dysmorphia, dichorial diamniote twin sister healthy. RERE RERE 1 1 Andreas Laner
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