Disease #07174 (NEDSID (neurodevelopmental disorder with speech impairment and dysmorphic facies), OMIM:619056)

Official abbreviation NEDSID
Name neurodevelopmental disorder with speech impairment and dysmorphic facies
OMIM ID 619056
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene SETD1A
Associated tissues -
Disease features intellectual disability (14/15), developmental delay (14/15), speech delay (14/14), motor delay (13/14), behavioral/psychiatric abnormalities (14/15), sleep disturbance (7/12), hypotonia (9/15), seizures (3/15), joint hypermobility (7/13), gastrointestinal abnormalities (8/12), craniofacial dysmorphisms (15/15)
Remarks -
Date created 2025-09-04 14:26:08 +02:00 (CEST)
Date last edited 2025-09-04 19:05:25 +02:00 (CEST)

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