Disease #01018 (CSS4;MRD16 (Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16))), OMIM:614609)

Official abbreviation CSS4;MRD16
Name Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16))
OMIM ID 614609
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SMARCA4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00380775 ? PubMed: Nair 2018 - ? - Lebanon - - - - - CSS4;MRD16 DD; coarse face; encephalocele; omphalocele; bifid uvula; sub mucous cleft palate; ataxia; muscular hypotonia (Multiple system disease) - SMARCA4 1 1 LOVD
00436445 - - - M - China - - - - - CSS4;MRD16 feeding difficulties SMARCA4 SMARCA4 1 1 Jing Mou
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