Disease #07105 (RENU;NEDHAFA (ReNU syndrome), OMIM:620851)

Official abbreviation RENU;NEDHAFA
Name ReNU syndrome
OMIM ID 620851
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant with paternal imprinting
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene RNU4-2
Associated tissues -
Disease features brain anomalies, distinctive facies, absent language; intellectual disability (0.91), neurodevelopmental delay (0.91), motor delay (0.61), microcephaly (0.57), drooling (0.13), proportionate short stature (0.280, generalized hypotonia (0.39), seizure (0.52), abnormality of upper lip vermillion (0.13)
Remarks -
Date created 2024-09-29 13:02:36 +02:00 (CEST)
Date last edited 2025-02-13 15:16:20 +01:00 (CET)

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