Disease #05405 (SKDEAS (Skraban-Deardorff syndrome (SKDEAS)), OMIM:617616)

Official abbreviation SKDEAS
Name Skraban-Deardorff syndrome (SKDEAS)
OMIM ID 617616
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene WDR26
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2018-03-09 10:47:09 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00295623 NGS_6549_BW_C - - F - China Chinese - - - physical training SKDEAS Clinical features of our patient were intellectual disability with delayed speech, developmental delay, gait abnormalities, and characteristic facial phenotype, but absence of seizures and autism. WDR26 WDR26 1 1 Wenjuan Qiu
00435243 260589 - - F no Italy - - - - - SKDEAS Synophrys, Motor delay, Delayed speech and language development, Ventriculomegaly WDR26 WDR26 1 1 Andreas Laner
00443884 276855 - - M no (Spain) - - - - - SKDEAS Autistic behavior, Delayed speech and language development, Generalized non-motor (absence) seizure, Neurodevelopmental delay WDR26 WDR26 1 1 Andreas Laner
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